Monday, 11 November, 2013, Guoping Li, audiologist in the Auditory Implant Service at Southampton
University: cochlea implants
1 3/4 hours combined talk, videos and Q&A, 17 people
My lip patterns when speaking English are not the same as regular spoken English so I hope you
will forgive my lip patterns for any lipreaders here and my accent.
I've been interested in giving a talk on cochlea implants (CI) as I've been working withthem a long time.
I'm from North China, Inner Mongolia , I was studying medical engineering in Beijing university.
I was studying engineering and a professor asked us to translate a paper as part
of the course to learn English. The paper I had to transate was about CI and I got really
interested in it. In my time of 1997 the students had no idea what they were going to study.
You chooose a subject based on liuttle more than the title. I studied biomedical engineering
because the direct translation into Chinese is medicine and engineering. My mum always wanted me
to study medicine because you can work anywhere in the world and earn more and higher status.
But I was intersted in engineering. In Beijing university they recruited 2 students from Inner
Mongolia, a large area for biomedical engineering. I'm 1 of the 2.
CI are using engineering methods to improve human hearing, even for people who could not hear at all.
Children can then grow up and have a normal career. Some of our patients become sellers,
studying law, doctors and as successful as others without hearing loss.
I now work as an audiologist at the CI centre in Southampton , formerly known as South of England CI centre.
Helping people with CI or people who wouild like to have a CI. Part of our job is trying
to access whether a person ios suitable for a CI or not. Then CIs need to be adjusted , like for
glasses and going to an optician. But CI is a more complex procedure. Instead of 1 visit
perhaps 8 or 10 visits. The adjustments so they can hear better.
Before worrking the 3 years at the CI centre I was doing my PhD on CI and signal processing to
become a clinical audiologist . I really love working with patients. After 3 years I felt I
could improve the current products. Communicating with the patients I have insight into changing the CI
Talk will be about the basic CI, how they work. The research work into CI has been tremendous.
A long time back Volte , who invented the battery. He tried tasting the current from his battery and a tingling sensation
. He also tried to hear the current. He put an electrode into his ear and he recorded that it sounded like
boiling water. So the first record of electricity and the hearing process.
Nobody looked into that further until a long time later until the 1940s/50s. In America
a company called Hawse? working o nthe first CI. They realised that hearing loss was due to a failur ein the
connection within the ear.
3 parts to the ear, the outer the pinea, the middle ear where there are some bones , the smallest 3 bones.
These touch the timpanic membrane, the ear drum . Sometimes the timpanic membrane is broken from physical damage .
On the other side of the membrane is the inner ear containing a liquid. So the fluid vibrates
in sympathy with the vibrations coming through the bones and membrane. Inside there is a membrane and on top of that
is some grass-like hair cells . The other side to the "grass" is neurons which encode the sounds. These then tell
the brain therer is a sound. If everything works perfectly you have good hearing. A human
could not engineer a chamber like this, or as beautiful as this.
It has a huge dynamic range. If you were asked to design a set of weight scales say 0 to 120Kg .
If you want to measure something accurately the best is about 2/3 of the full scale. Imagine weighing
a gold ring on bathroom scales. Putting the human ear and sound , in terms of weighing , it can
measure from the weight of an elephant to the wright of an elephant.
That sort of system we just cannot make. In sound we measure in dB , my speaking voice now is about 60dB ,
to mask the noise I'd probably have to go to 80dB. Shouting would be about 90dB . 100 to 120dB is an airp[lane going over
. More than that and you'd be hurt. Moving fingers overe the felt of the pool table is about 10dB .
When you play the pioano , the human ear can distinguish very slight change of ftrequency , say from 1000 Hz
to 1001 Hz, you can perceive the difference. Builds a system to do that , perhaps for a spot frequency or two
but not through that whole range from low pitch to high pitch , that is quite beautiful.
The ear is highly structured , perhaps designed by the gods. It has a beautiful structure , looks like
a snail. It encodes different sounds at differnt places. The lower frequencies are encoded at the top
part of the "snail" and higher frequences at the lowest part. Its not irregular , it has a system.
This encoding system is also represented in the higher cortex of the brain. Different places
responding to different frequencies. It took a long time for scientists to discover these
features enough to become the basis for CI.
To give people hearing, there are 2 main things to think about. The ability to discriminate between high and low pitched sound
. An electrode at the physical top would give information on the low pitch . Put it lower
down and high pitch info. In the original CI they used only 1 electrode.
Consequently many of the leading scientists said this is not going to work. Look how many
hair cells we have and then thousands of nerons. Would you damage what hearing there was remaining. What about
infection, meningitis . What if your current is too much and perhaps damage other parts of the
brain also. No its not going to work. Despite this negativism a few people continued and tried.
In 2013 the 3 top scientists in the world , their CI research was recognised , as the Lasker
award, in the medical world just one place down from a Nobel Prize.
Q: Could you explain to me about the blood supply to this particular hearing aparatus?
From personal experience apparently the blood supply to one of my ears has been lessened and
therefore I'm rather deaf in that ear.
Unfortunately my background is not medical doctor. I wish I couuld explain in more detail . My
understanding is that the blood supply to that area . You have the hair cells, you have the neurons
and supporting tissues . It is a very tiny area 2 to 3 cm range . The nutrition for the hair cells ,
only relying on the supporting tissue and a high requirement of nutrition and any reduction or
change of supply of blood will soon impact on the condition of the hair cells. I can't give more
detail as to which blood vessels go exactly where.
Q: THe ear seems to be a lot better than it needs to be. If I use the telephone I get near enough all
the information I need and that is only between about 300 Hz and 3KHz. Also I don't need to
distinguish very loud noises because if a predator was after me . I do'mt need to distinguish
loud and very loud. Why is the ear as good as it is?
We don't know. For normal hearing , understanding the phone is easy. But for people
with hearing impairment, despite the best hearing aid or the best CI, they can understand
well in a 1 to 1 situation. But they often cannot understand TV , or phone . For normal hearing you perhaps need the
redundency i nthe system. If you are losing 1 channel , the other channel can still work .
Expecially in intrusive noiise situations, you need all the resources to understand, to encode the volume , the
words, the information. For the hearing impaired that redundency is not there and a reduced capacity
to encode the signals.
Q: What are the criteria that would mean someone was suitable for a CI rather than a hearing aid?
There is a NICE guideline . It recommends that if your hearing loss is more thsan 90dB ,
the noise for instance if I dropped this glass on the floor and it shattered. If the patient could not
hea rthat , then a candidate. Also consider speech tests, and those results must be lower than
50% . eg a test phrase spoken "The monkey climbed up a tree" and in your words only repeated
the monkey and tree then reached the criteria for a CI. Different clinics operate
differently , different degrees of speech test severity . In the USA they are more relaxed ,
no speech recognition test . In China it is different again.
Are there situations where you would say it was better for the patient to definitely go for a
hearing aid instead of a CI? regardless of the money
In clinical practise, for 3 years. We've seen patients who could benefit from a CI . For example for
hearing loss we test at 2 frequencies 2KHz and 4K , 90dB. Some are in criteria and definite CI but for
the same person and doing the speech test they get say 55% . Sometimes with speech testing they can
use guessing , the monkey may only climb a tree or a house , not many possible choices for a valid phrase.
You tell them not to guess , but because of the guideline issues , no CI. It can be frustrating.
We keep monitoring , come back if they notice a change particularly on the communication
side. There are different devices. There are devices that give acoustic amplification and
also cochlea stimulation . So a combination of hearing aid and CI as one device ab
electro-acoustic decice, for patients
with less amount of hearing loss and can be beneficial. There are funding issues for such
I feel I can hear average for my age, but I'm finding increasing difficulty with confusion. For instanc e
in conversation in a large environment with a lot of background noise. Is this a hearing defect or a brain defect?
Hearing science is relatively new and the psychology of cognitive function has not really been
taken into account. If I do speech function test, I don't do your cognitive function, that is your
memory, your ability to encode information . There is research now addressing this area.
Aging and cognitive function decrease and listening within a noisy environment will be
a factor. Distinguishing which sub-area is declining is very difficult to establish. There is a national
helpline telephone . The Professor I work with Mark Lutman he developed a telephone test.
Just dial a phone number from home , it will ask for your age and sex then you will hear spoken numbers like
123 , 324 . Then repeat with masking noise of various levels . The more you understand correctly
the more the noise level will go up. The assessment is then normal. bit below normal or definitely need to
see an audiologist. A raw estimation of your hearing levels. Google telephone hearing screening will
give the telephone number
Is the range of volumes that humans can hear is it the same for all humans apart from the
hearing impaired or are there people with greater range?
Super hearing ability , not been systematically investigated as far as I am aware. They define normal
hearing levels by recruiting younger people aged 20 to 30 and from that defione the average.
Currently it is about 20dB across all the frequencies. There are variationbs within that 20dB.
Some can hear quieter sounds closer to 0dB. For the loudest sounds it is defined as below
The range of frequencies?
The defined hearing frequency levels is set, up to 8KHz , children can hear higher frequencies than
adults . For aging adults the high frequencies worsen. On the media there was the "mosquito"
device to scare away teenagers from shops.
The older people get , they loose the higher frequencies , I've heard it said that musicians, Yuhudi
Menhuin being a classic example do not loose the top end. It seems to be use it or loose it ?Do we know what is
happening in the aging ear of a musician and why different to the aging ear of other people?
I'm not aware of that.
With the mosquito thing, I heward children were recording that sound to use as a ringtone
so it can go off in the classroom , unheard by teacher?
The CI. An electrode placed to stimulate the neurons to help people to hear. The CI usually
has 2 parts , one inside the ear . Originally like an electric plug to connect outside to
inside. Any sound is processed by the external part , from acoustical sound to electrical
pulses . These pulses are picked up by the internal part of the device then send the pulses to
the neurons. This plug and socket coupling led to infections , so now they use an
induction process. Power and signal can be transferred through the skin without and electrical
wiring between, called percutaneous connection.
A video of a patient , a small child. At the age of 2 the parents found a hearing aid would no longer help.
The only chance for the child to hear was with a CI , implanted at age 2 years 7 months.
It is little realised the effect on a family , not just the child having hearing loss.
Hearing loss is a hidden handicap, not like blind people. Others will try and help the blind because it is
obvious. Other people do not know a person cannot hear. Inability to hear in noisy surroundings often leads to not wishing
to go to parties and socialising . Cannot even talk to your close family . There is an invisible
wall between you and your friends and family. A nice aspect of being an audiologist is to see
that transformation . When they first come to the clinic they are depressed , desparate for help.
Gradually after a CI you can see they have almost changed to a different person. That is
the biggest reward you can get as an audiologist.
Q: I can understand the technology o nthe outside, microphone, amplifier but what is on the
other side. How does the electronics communicate with the biological system?
In order to make the electrode current suitable to being picked up by the neurons we had to
do a lot of physiology studies on animals. You need to give a charge to the neurons .
Is it just an alternating current at the frequency of the sound?
No. Graeme Wilson was given the Lasker award because he developed a strategy.
He developed how to encode the acoustic signal to the electrical pulses. In the beginning
it is counter-intuitive. You have sounds say
translated into a signal represnting timiong and frequency for ah and bah lots of low frequencies ,
you can feel the vibration of your vocal cords making those sounds. You see a change from the ah to the B of bah
, a burst that is not as much energy as the ah part. Initially they converted the largest energy sections
and modulate that energy with electric pulses . Then send those pulses to the neurons, and
pick up the information about the original sound. But the first CI, the speech perceptioon
scores were poor . The one elctrode , one channel situation it only helped as part of lip-reading.
Some people can do lip reading without any sound , better than 50 percent but with start and stop
information then their lipreading score can go up quickly to 80 or 90% correct.
If you do not see the speaker then only 20 or 30 percent performance/
Patients now can reach 80 or 90 % speech perception without problem . You do not worry
about high energy to low energy sound any more. When you stimulate you have to give delays, this is what he
discovered. If I say ah there is some enrgy on the lower side , some on the high pitched side , but
when you stimulate you have to interleave, a gap between stimulations.
For CI with 22 electrodes if you stimulte a number at the same time you get a channel interaction .
Intuitively you would think that to stimulte together would be better but its not. You have to
stimulate them at different times . Although physically they happen at the same time across
high and low energies but if you stimulate the channels at the same tiome they will talk
to one another and the neuron will be confused , so requires staggered selays and interleaved stimulation.
Then one channel does not interfere with another channel, that is what he proposed
Does it rely on the brain, in effect, having to learn new skills?
I'm thinking of an optical experiment where an experimenter had some goggles made up
that turned everything upside down. Initially he was walking into things but in the first
day he could walk around a room, next day wealk around where he lived
and by the end of the week he could even ride a bicycle. Which is the brain adapting to a very different
setup, how much is the brain involved in having to adapt to CIs? does it require training to use them?
Very much so. On first switching on they report strange sounds , nothing like talking, mor elike Donald
Duck. Someone reported it as a broken radio. Over the weeks they report improvement in clarity until
after 6 months is about the maximum improvement.
What about music?
Music is the most cjhallenging part for CI. 3 things for the future developement, listening in noise like
in the pub some people manage to but most not, music to enjoy music but the processor was
designed for speech but many report enjoying listening to music but if you test for their music
perception ability . If I play different music instruments their accuracy is not that high.
To normal hearing people it is obviously 2 different instruments. The third difficulty is tellephone
usage , the phone is the dream of a lot of CI patients. They rank telephone use above both
music and conversation in noisy places. Many families are now separated by large distances and
want conversations by phone
The phone problem is because it is lacking in the high frequency components? I would have
thaought that most of the data that was coming from me when I speak is between 300 and 3KHz
why the difficulty in perception.?
The signal coming from the speaker of the phone is already much degraded , sometimes the signal
is clipped , digitalised sampling , transmit to the receiver and distortions in the line , even for normal
hearing we can often hear the distortion. With a CI any incoming signal is transfered . For normal
hearing we can detect it is distorted ignore the distortion but for CI the neurons get given the
distortion signal and pass it on causing confusion for the neurons/
When first implanted you say they hear different sounds what about people who have never heard
anything before? You referred to Donal Duck before which requires fore-knowledge
We even have difficulty in adjusting the loudness , it is difficult for them to say which is louder than
another sound. Difficult to know which is the high frequency and which is the low. It is easier working
with people who have experienced hearing before.
For a patient how long will the operation take , any complications and what is the after-care?
The surgery takes from 1/2 hour to 2 hours. In the early days a complication was a facial nerve ,
facial paralysis but now almost never. tHat is a risk because the cochlea , for surgery,
for electrode entry , is very close to the facial nerve. Now they have advanced technology
monitoring the facial nerve, even before touching that nerve there are warnings delivered.
There is a risk of meningitis , infection within the brain or skull . Now there is vaccination
against meningitis and before a CI implant the surgeon will check whether you have had
a meningiotis vaccination. The anaesthetist has to check for your genearal physical health status.
Nowadays considered a straightforward surgical procedure.
Its not classed as a major operation?
Depends on your view.
You don't need to do anything much. There are post implant Xrays just to confirm the CI
is in the correct place and after a month before switching on the processor the surgeon will
check on the healing process around the site. On the medical side there is not much requirement for
ongoing checks , just yearly reviews to check for any medical issues, just a few minutes of
observation. With some children , if they get a bang on the head , then they may need
imaging exploration to check on the CI . Most post-op work is the audiologist and
speech therapist , language therapist .
You mentioned the delay before switching on the processor, how long does it take?
Usually 1 month , purely to ensure that the internal part is stabilised, because initially
there would be inflamation .
How cumbersome is the external part?
There is a short wire and something like a small hearing aid , the wire connecting to the external
coil inductive unit. 12 cm is the longest wire I've seen . You can see it but women with long hair
easily hides it. The newer one is just a button with all the external part mixed in one button
and no wire
As you have external parts, can you go swimming?
An American company developed a completely waterproof one.
It won't upset the inner ear?
No , the surgery is closed , the middle ear is normal as with other people.
Is there much intrusion into daily life?
The battery needs charging is about all
The internal part must also need a power source to drive the electrode pulses?
The power comes from the external one , powered through the coil that also carries the
processed sound signal.
There is developemnt of a fully subcutaneous system with nothing showing outside with battery charging
via the elctric toothbrush type induction charging
A hypothetical sort of question. A famous classical musician percussionist called
Evelyn Glenny. Who as far as I know is totally deaf , she plays barefoot and can appreciate music
and play in an orchestra via floor vibrations and sensation in her toes. I'm assuming that if she
had a CI it could be deleterious. It might interfere with her lifetime experience and perhaps could
no longer be an active musician?
(From the audience) I had a similar experience, my piano tuner despite being totally deaf.
A number of musicians are deaf they must be exposed to louder sounds than is usual. I don't know
if Beetoven had been given a CI he would have performed better or not. It depends on what skills
you rely on, if more than sounds in the way of feeling and touch sensation
I've heard that amongst the deaf community they've learnt sign language and there is an
anti-CI movement because if it takes off the whole deaf sign language process would collapse,
have you any input on that?
That was particularly strong in the early days of CI. They were unsure how effective
CI would be and the science behind it was not strong. These days you rarely see this. You have deaf
parents , when they see how ? with CI they are more than happy to let them have a CI.
There are cases where parents do not want their children to have CI , I've heard from
other colleagues but its getting very rare. So more a generational sort of thing and
will eventually pass through. These days we have a screening program and even babies
just 1 week old there is a hearing test on them and can immediately tell whether they
are hearing impaired or not. Then you can do monitoring, hearing aids, CI. THese children
are very fast tracked especially in European countries .
You've spoken oif the success with infants , do you hav eexperience of success with the much mor emature
like 90 yearolds?
Yes we have . In our clinic the youngest has been 6 months and the oldest one about 93
years old and she is a star patient. Her deafness came very late, slowly , beyond the help
of a hearing aid , then a CI . The age is not a concern at all.
A patient that age would not be considered for something like facial surgery because of the
risks under anaesthetic but the CI surgery is medically minor enough for people of such age?
Yes. The surgeon and anaesthetist has to balance up what advantage can come to this person
compared to how mnuch risk . So many CI surgeries have now been done that it has become
quite a standard surgery.
I'm assuming that for the same level of impairment that it is easier for a 2 year old to
go through CI and learn to use it than a 20 or 30 yearold , the brain adaptation business, is that the case?
Brain adaptation for the young is quicker . If a patient has already been deaf for many years
and his spoken language is poor . When they become 40 or 50 when they realise that youngsters around
them do so well with CI then they tend to opt for one also. By NICE guidelines we would offer a CI
but the expectation of the outcome is much different to a young baby with a CI. We have
to do a lot of counselling about the outcome. An iomprovent in speakiung ability in not
possible for example. You can learn sign language when you are older . Audiologists are
trained to use sign language for example. But for spoken language the later you start the
Any idea why there was never an international sign language , like Esperanto. It seems ideal
for international communication but no there is an American sign language , a Brittish one etc?
The sign languages developed through local communication needs . There was no requirement
to sign language internationally in the early days. For a deaf Chinese person there was no
situation where they would need to sign with a Brittish person.
It seems such a waste that it woulfd have been ideal for international communication?
How do you manage the life cycle of CIs. Does it need to be replaced after a certain number
of years. I imagine the technology improves . If you are looking at a potential 90 year
working lifespan. How often do you have to replace or can you leave the internal CI
i nthe cochlear and just change the external?
A new producty line coming out , they just change the external part , upgrade the processor
they don't touch the implant. You don't want to do unnecessary surgery.
Any product has a lifetime and the qustion is how long that implant will
survive. Data on that is not determined too well. We have seen patients wioth a failed
device and also failings i nthhe electronics just as any other electronic device. The product
quality may noit be as good as specified . We also have patients with the same implant for
more than 30 years without any problems. I think this is a topic coming to the fore as CIs are
becoming more popular. The European regulations are becoming more scrutinised in this
area . The company products have to meet a standard and a product warranty of say 20
years. But what happens after 20 years, unknown territory.
In the video 300,000 people with CIs. You would think they can build up a statistical
pattern for mean-time before failure even if based on 10 % of the ones that had failed ?
For any failed device they have to do a report to the regulator body but the probelm
is the reason for failure can be tricky . Sopme people no obvious reason for failure, others it is
obvious damage . Al lthe companies have some reliability data for 5 year . But data
for these products after 20 years , that is not clear . The companies are very sensitive on these issues,
not talking to each other.
I know the head does not grow as quickly as the rest of the body but what about growth?
The CI site of the inner ear is about adult size even within the womb I believe, early maturation.
With orthopaedic surgery say a hip replacement the surgeon wil lsay you need to
come back in 10 years time to change or upgrade it , not the case with CI?
No . The coclea of different people is not the same size but selection of placement is
determined by Xrays and pre-surgery imaging . Some patients have osification
at the inserts and have to have a different insert .
What happens when a baby gets to be a teenager?
What's the cost of an implant?
Free. The device itself is about 20,000 GBP and about 5 to 10,000 a year for
the maintainence . We are reaching about 1/5 of the world population who really need a CI.
There are many who could not afford a CI or do not know they need one .
It takes a long time before a person is referred to doctor to ENT to audiologist to a CI centre.
One CI only?
With the NHS yes one
How does that affect sound perception with 1 ear only?
For example if driving and CI is on right then you could not tsalk to a passenger easily.
For an adult you can implant bilaterallly , a French company called Neurolec? produces
one processor and 2 electrodes . If you are blind and also hearing loss you could be
offered 2 CI, for adults. For children it is by default for 2 CI.
The current products do not have the option of a microphone on both sides of the head.
There ar ecompany rivalries?
There are 4 companies in the world, Model ? Austria , Onyx? bionics USA , Cocklear austrlia ,
Neurolec France and one in China and fierce competition, good for the user , the price
in China has reduced significantly because of local competition there.
Do the device companies stipulate who does the surgery, a tie-in like that?
No. Different companies in different regions have different marketing approach .
What does th eNHS use , the French?
The NHS has no specified company. In Southampton its up to the patient to choose of
about 3 possibles, best for differnt lifestyles for example . In other UK centres they
only offer 1 device, easier to manage , easier to stock , easier to get staff trained.
Audiologists have seen a drop in the funding side . 20,000 is cheap for the change it
can bring about for a person.
You have to think about the social cost. For someone who cannot hear well, her education
will suffer and family support requirement diverts their energies away to one and also a cost
for society .
[ Transcription note: I thought it would be difficult to transcribe a speaker with absent "r"
and "th" etc. But perhaps related to what he said at the beginning
" My lip patterns when speaking English are not the same as regular spoken English so I hope you
will forgive my lip patterns for any lipreaders here and my accent."
I was reminded of when I knew somone with cerebral palsey , I could only understand him
if I looked over his head and not look face to face. It seems everyone uses lipreading to
some extent in normal conversation. If there is a disjunct between the facial movements
in speech and the sound of speech then that seems to confuse the brain interpretation of the spoken word.
Remove the disjunct, just relying on the sound only ,
then more comprehensible ]
Monday, 09 December, Anneke Lucassen, Professor and Honorary Consultant in Clinical Genetics,
University of Southampton : What do my genes say about me?
38 people, 1 1/2 hours questions in the main during the talk then some Q&A , Turning Point Polling zappers
(requires local wifi network and laptop)
I've handed out polling zappers. Raising hands can be an effective means but these zappers retain anonymity not
that there will be terribly controvertial questions. Its also a bit of technology to play with.
This talk is part of a public engagement on genetics and ethics that our department is involved
with. What do my genes say about me is a huge topic that I can't give all the answers
to today, a bit of a flavour. The sort of questions I get asked when I see people who get to
know what their family history tells about them. Also the sort of difficulties that we come
across in dealing with more than one person , the relatives of a person asking that question.
Wht are the assumptions made about genetics , what's true about the surrounding hype ,
what's the current reality , some of the terminology , what we can and can't predict in terms
of disease. What difficulties arise concerning personalised medicine which genetics is often
hyped as. Genetic information is familial and how do we manage those dual things.
A few anonymised stories based on real cases to give an idea of what happens in practise
and I'll ask you to vote on those.
Genes come up in lots of ways . A headline from the Telegraph. Adam Lanzer? a teenager in the
states? had gone out and killed various people , and the headline.
Is Evil in our Genes?
He had been so evil that must be due to something in his genetic makeup.
Then a more local headline
Life of Crime is in the Genes a study claims
Then we have an impression of genetics being very scientific , about test tubes , genetic
code that looks very clear-cut and very black and white. Or we get a sense that genetics is rather
hazy , off the point and crystal-ball gazing . We can't predict whether we will be run over by a bus
so what is the point of what our genes may say , a stark contrast to the scientific imagery.
Genes are often associatyed with stigma or discrimination. Its thought that if you had a genetic
test , that your employer will be able to find out what the test says and then sack you or
change your conditions, you might not be able to get insurance , those sorts of isssues.
Recently , the patenting of genes, a complex legal issue , where scientists have tried
claiming bits of genetic code as something they can patent and then only they can
do associated tests. Thats been very important in breast cancer gene testing. The
Angelina Jolie "gene" , for a long time could only be tested by one private USA
company as they had patented that gene. In the UK we ignored that patent for a long time but enven so
there was a lot of wrangling before it was recently overturned.
Then headlines that spur people to enquire at their GP to have genetic tests done. I
work at a genetics clinic , partly an NHS doctor seeing referals of people concerned about
their family history and the other half of my job is as a university employee who does a research
programme on the ethical and legal issues associated with genetic developement.
So headlines such as this
Her mother died of it, her aunt has it , she'll get it too , what about her 2 daughters.
Then this dramatic headline
Gene test spares mother surgery
A woman was about to have both her breasts removed as a preventative option because of her
family history and then the gene test showed that she had not inherited the gene fault and therefore
surgery not required. In Angelina Jolie's case it was the other way around. The test showed she had
inherited it and therefore went for the surgery. That started a heated debate about whether that was a good
or bad thing for her to do.
Polling zappers , the first 4 numbers , once you've voted you cannot undo your vote so have a think
before voting . Pressing a button more than once is excluded from the polling, the first one only
So straw polling of the types of thinking, what you agree most out of these situations.
If a gene test could distinguish between a very high chance of getting cancer , like Angelina
Jolie as a n example of 80% or more chance of breast cancer in her lifetime as compared to
the background population risk which is about 10% . Then would you take the test ,
only take the test if something could be done ie a proven treattment or intervention. The
men have to imagine they are at risk of breast cancer. Would you not want a test as there
is no point in knowing . Or do you not know at this stage and want more information.
50% wiould only take the test if there was a treatment available. a small minority
would not want the test at all. 20% not sure and 26% say they would definitely take the test.
Brilliant, the technology works
Q: Picking up on your point about men only rarely getting breast cancer. Do the same genes come into effect?
My first GP was male and he died of breast cancer in the 1970s. Absolutely right and men can get
breast cancer and when men get it then that is often more of an indiication that there is a gene in
the family, compared to a woman so diagnosed. In a woman the cancer can be a result of chance
, getting older , not necessarily genetic.
To me these days, genettics is sold as very much personalised or stratified medicine, using genetic
code to personalise treatments in a way we could never do before. A lot of publicity and a lot of
funding has gone into this tailoring medicine. But to a certain extent our genetic code is
shared with others . When we have changes in our genetic code usually we have inherited them
or passed them on to our children. My question is wnen and how do we alert relatives when
we know there is something in the family to give them the ability to make informed decisions.
So the family's role or the professionals role in spreading that sort of info.
A pic of a cell , looking to the centre , the nucleus , inside are lots of chromosomes which are
bundles of genetic DNA material that is tightly wound up . Looking at them under greater
resolution , you can unwind that into the long strand of DNA. The DNA is held together by
nucleatides , 4 of them, and the combination of them gives the dictionary of our genetic code.
The combinations of nucleatides sends a message to the body to control the various actions.
We have about 3 billion of these "letters" GATC in every cell in our body with some very rare exceptions.
The combination of all those nucleatides is called a person's genome. Sections of that string
are called genes. The genes were considered to send specific mesages to the body .
The genome is the whole lot together. In a particular gene, the way these letters come together
makes eventually a protein perhaps an enzyme or something else to tell the body what to do.
If you have a fault , a missing bit or an extra bit in your genome, depending on where that lies
that can result in quite drastic effects on that message. Sometimes just 1 letter that is wrong
or missing and end up with a debilitating condition. But if we looked at all the genomes in
the room we would find lots of differences between them . Because 1 in everyt 1000 of these letters
is different. That determines our diffferences, appearance, hair colour , tallness etc.
Somne variations just contriburte to normaless and some cayuse disease.
Its distinguishing which one is which that is crucial in predicting . For example achondroplasia
, dwarfism, is down to a single letter change that result in all the features of achondroplasia.
Putting this variation into context. If I had a twin then the genomes would largely be
identical, broadly speaking. Between my genome and Kate Middleton then we would be
99.9% identical, 1 in 1000 nucleotides , not regularly every 1000, on average, are differnt.
Between me and a chimpanse then 99% identical. And we are remarkably
identical to cabbages , 33% of my DNA is the same as a cabbage.
Its these differences that are used for determining our prevalence to diseases. Over the last 20 years
looking at variations on a genetic level, for example between a disease population
and a control population and seeing which ones are associated and which that aren't.
There are a lot of uncertainties associated with that.
DNA testing for crime analsis, using that variation for the purposes of crime-scene DNA
collection. So say for 4 suspects samples and 1 crime scene sample then only 1 of those
4 has the same as the crime scene sample. Lots of problems with that but it has transformed
all the detective programs on TV anyway.
Its very rare to get a strongly inherited condition and you can have a family history
of a condition but not have it pointing to a single inherited tendency. Thayt is counter-intuitive,
say a family has a lot of history of bowel cancer you are inclined to think that that is an inherited
factor. Often it isn't , but a much more complex explanation . Because some diseases are common, you
may be getting that disease by chance alone or an inherited component.
That single inherited component is rare and its much more usual if you are talking about
diseases like cancer or diabetes or heart disease then any genetic componet is a complex
combination of different gene variations and the environment lived in and neither
on their own is enough to cause the disease but its the interaction. We know relatively
little about those interactions, poor at predicting them well.
So thinking of a complex fruit machine . In a disease like diabetes we are good at saying say a 7
or bar gives an increase in risk but we don't know how they all play together to give the
one disease developemnt . So you may have 8 of those risk factors and never develop
the disease , only with the 9th or tenth that you develop it. Despite the heasdlines, it is that area we are lacking in.
Complicated area of bioinformatics . But the study of DNA is getting faster and cheaper at
phenominal rate. In the last 20 years its got a million-fold faster to sequence DNA
and a million-fold cheaper.
In 2001 3 billion pounds to sequence 1 genome and took many years, the Human Genome Project
and in 2013 you can do a whole genome for about 700 pounds and do several in a day.
That is technicalay the case but it is the interpretaion that lages behind hugely.
People have talked of a 1000 dollar genome but a million dollar interpretaion.
Yes you can do it but you cannot do anything with that information. We are not necessarily helped
by the portrayal of genetics that makes it sound nice and clear cut, black and white.
We have this test -we will know what the future holds for you.
An example of a rare form of inherited bowel cancer. This one determined by a single gene fault.
"John" has been diagnosed withthis bowel cancer at the age of 30 . And because he is so young
that suggests he may have a gene fault because bowel cancer is more common at an older age, 60+.
We do a test and he does have the suspected gene fault . He has 5 siblings , 11 nephews and
neices, 10 aunts and uncles and 23 cousins . The qustion is should they all be told
that he has that gene.
1 for yes, 2 for no and 3 for unsure
majority say yes , none say no and some unsure perhaps thinking it depends on various things
Then supplementary question . Should John be responsible for telling hiis
relatives as opposed to health professionals
Majority say no, a big chunk say yes and a few unsure.
Next question is should health professionals be responsible for telling John's relatives?
They may not be exclusively relevant . At the moment professional guidelines i nthe UK
would say that health professionals can't get involved with contacting relatives out of the blue.
In that sort of case it would probably be doctors because of specific GMC guidelines
that would let doctors do that in certain circumstances as compared to nursing staff, I've been told.
Fro mthe guidelines -contacting someone out of the blue , would undermine their right
not to know about something. Difficult to exert your right not to know. Also practically
quite difficult to find you all with names and addresses and it may be stigma inducing
of the initial patient . A number of things that overlap but none on their
own say thou sjhallt not . In practise John would be told , tell your relatives
and may be given a letter to pass on , but in this country he would not be compelled to provide
a list of names and addresses for us to contact directly .
You are not alone. If I asked this question of members of the public but not my
professional; colleagues then the majority would usually say yes. But professionally
told not to do that. An interesting mis-match that we need to look at more.
What if the gene test showed an untreatable form of bowel cancer. You may have thought it is a
good thing to know because you can be screened for it, a treatment for it . In the gene that John has
, if you identify people early they live 20 to 30 years longer than late identification. That may provide
a strong argument to identify all those at risk but what if it was a condition like Huntingdon's Disease
a form of early onset dementia with movement problems , no treatment but a very
predictive gene test, both confirmation and clearing the risk. Would that change how you would vote
about gene testing?
Q: If the route of cominication to be via the GP , one strategy would be for a standard question on
registering withthe GP to be , in this eventuality , do you wish to be informed. Its likely to become more
common , not overnight , but slowly work it in?
Q: Attitudes to consenting to something like that may vary with context considerably?
I was going to say exactly the same thing , and also what we know from Huntingdon's disease itself
that before the gene test was available we asked people , would they want to be tested and the
majority from Huntingdon's families said , Yes. After the gene test was available , only a tiny
minority went and had the test. So we know that what people say they might do is different to
what they actually do. Its still important to know both . If this arose could they give an informed
decision about that.
Q: Anothe rstrategy would be to sentd them a letter with tear off bits .Such as you have been
identified, do you want to know . Would anyone not tear it off? they all would.
The issue about a right-not-to-know is very difficult . You have to know there is something to
know , to be able to assert your right not to know . Sometimes we can get around these by saying .
We have identified something in your family , do you want to know more.
Q: Huntingdons is inherited but some of the cancers are not?
I'm interested in your opinions where it is definitely inherited, then we can identify at-risk people.
If its not inherited we don't really know if there are increased risks.
Q: Doctors are trained in drugs , they are basically salesmen for the pharmaceutical industry
, therefore presenting a biased problem?
I'm a doctor and I'm not biased in that sense because I don't prescribe anything. I'm not
influenced by the pharmaceutical industry . I've prescribed in the past but in my present role
, nothing to prescribe. What I may be biased in is in what my professional guidance tells
me to do.
Q: Making doctors responsible also meands that you can blame them. Our society
is always looking for people to blame.?
Yes I think that is an important point. A lot of health professionals have said ,
look we can't possibly do this because we don't know where a family ends , endless relatives.
How can that be our duty. A real difficulty in that area.
So this question is asking do you feel differently about that sort of information from
whomever,if its treatable or if its not treatable.
Q: Is it possible for a health professional to offer a service whereby a patient makes
a decision that his family should know , but he himself does not want to do the informing but can
supply na,mes and addresses .
As a genetics service we try to do that , but its thin on the ground. As genetics expands it cannot
be done by just us . The biggest problems arise from just people not getting
around to it, not just saying such snd such. So John's brother later has bowel cancer and then
question is asked, what should we have done differently. That is where we want to tease out , whose role
it is and is there a point at which you stop.
Q: There is the issue of the living-will. You can then take responsibility for your own health . ?
What would you say in your living will.
That you don't want to be treated, be prepared in any eventuality
If in your living-will I've said I don't want my relatives to be told ,m because I don't
like them , or lost contact with them or whatever then do we have a right of veto. or is it
around a gene inherited i nthe family that means they also have a right to know.
Q: How do you deal with people who've been adopted or fostered, who have no idea of their
The adoption agencies are incredibly helpful , if we have some information to pass on, but you
need to find that info firsyt. Often the adopted don't come with the question because they
don't know their family history. We only deal with people who ask the qustion in the first place.
A big chunk of you still think that even if there is no treatment , this is something that relatives
hafe an entitlement to knowing. Not that much difference in size between the yes and no ,
and then some unsure .
I feel the same, its not clear . Its clearer to me that if I know there are people out there in whom
i can prevent serious harm , I have a greater responsibility in trying to find them. Not necessarily a duty
but a moral responsibility to alert them in whatever ways I can. But I also think that if there is no
treatment available that even then they may like to know what is around the corner for them.
What we are coming across withthese new genetic technologies is a change of pace.
What I as a geneticist 10 years ago did , I would go fishing. I would look at
sopmeone's family history , clinical details , I would fish for an answer. That bit of your
genetic code is likely to hold the problem , I will test just that gene. Now with the cheap
sequencing technoques , whole genome, we are trawling instead of fishing.
You have a family history, we don't know what the problem is , we wil lsequence the whole lot
and see what we come up with. Although that sounds mor eefficient , we have all heard of the
problems of trawling as well. Deplete the ocean bed quickly , pull up rubbish like an
unexploded bomb. I think that is a nice analogy on how
genetics is changing clinical practise . Unexpected information comes up in this example.
A young girl with learning difficulties and some of the features suggest she may have
a genetic problem, She has the raditional genetic rtest that finds nothing and then
a trawling test that doesn't explain her problems at all. But what it does find is a gene that
predicts she is likely to develop breast cancer as an adult. So a surprise finding that has nothing to
do with the reasons for haviong the tests but still a significant result. We would not do anything withthat result for anothe r
20 years because although breast cancer can occur when young , not that young, requiring matured breast tissues.
Do you think that Kylie's parents should be told now about her adult risks?
Most say yes , quarte say no which is more than I usually find. Again tricky professionally because we
have guidelines that say we should not be testing a child for adult onset conditions because there is
nothing we would do in childhood to change that . We need that choice for the child to find for herself
whan as an adult she can make that choice. Again a descrepency between opinions of the
public and the guidelines.
What the question is getting at is that you as the health professional , has the result, what do you
do with it. Do you tell someone because you feel you have to tell someone, keep itin her notes or
tell her GP saying we have not disclosed this to anyone, can you disclose it to her when she is an
Q: Does it also depend on whether the parents knew the test was being done, or whether as a background
test without informing them?
The parents definitely knew we were doing the trawling test , but there are 3 million different outcomes
from that sor t of test. And so whether they could have given a good informed consent , upfront, is the
question I am struggling with myself. When we go back to the parents they often say we agreed to the test
but we did not realise what was a possible outcome. We cannot sit through a discussion on all possible
outcomes, it would take days and too many different possible outsomes.
Q: SAll sorts of things can happen in 20 years.
Its particularly an issue for a child who cannot choose for themself , only about the risk when an adult.
Q: What is the error rate for this new gene sequencing ?If you have the error rates you can do a proper
Bayesian analysis . You can get some nasty false positives ?
You are more likely to get false negatives because they have a positive in the broad trawling test
, then gone to the lab, homed in on it again and then done the traditional test which is say 99,99% certain.
the chance then there of being a false positive is very small. But you are right that we need to think about
Q: A child with learning disabilities then the parents have more responsibility for .?
At the same time they may just worry more . Already worried about the learning difficulties then
as an adult she is likely to get breast cancer, that may just burden them , rather than help.
I suppose what we are trying to do is help , not burden. You highlight that well but not an easty
Q: We are all focussed on the rights of the child . She would have inherited this from somewhere , this
surprise result. Her mother is presumably over 20 , might want to know if she is at risk.?
Your argument is that it is not ideal for the child but I need to test mum .
Q: the ethics bother me, its a huge reesponsibility to tell someone that we've identified this problem
, that more than likely will happen to you. Maybe its delivered to them not in an understandable or helpful way to them?
It can then become a huge problem that they then have to carry. I've met people who have been given a label
for example and its the most terible thing, just given to them by someone else.?
Which is why the trawling is not the great thing its been portrayed. But I think we are at the
point of no return. Its very difficult to say , not use the new technoques, we have to go back to the
old techniques. We have to find a way round it.
Q: It also depends on the sort of person that would be told. My mother had an extreme medical
phobia , run out of the room whenever anything medical was on TV. But her sister used to
lap all this up. Presumably you get this spectrum across the population as a whole. ?
You do. The phobic people I would never get to meet, they don't come top my clinic. A lot
of varriability. I'm trying to tease out what is the right and wrong thing to do and accept
there is a lot of permutations of that.
The previous question is you have the result already . Here is a parent come to you and say ,
I would like my child tested. A lot of the AJ headines said she was going to get her children tested
for a gene fault that only has an effect in adulthood. Is that right? or should thos e children
be allowed to choose for themself when they get older. The Americans say that parents can
decide what to do for their children. A differnt view here and northern Europe , childrenb
have more rights.
Majority say no, should not be tested . Often when I do these talks people have this
strongsense of it being the parents right to test their child. This poll is much mor e
in line with what our professional guidance tells us to do.
Another one, more akin to the adoption situation.
Mark is a sperm doner to 3 different families . He has no known family history of
disease at time of donation but subsequently finds that several of his family have heart disease.
Should the donor's family history be passed on to the donor conceived family and also a depends option.
Majority say it depends , some say yes, some no and 6% unsure.
A followup question. If the heart disease was due to many different factors. The fruit machine
situation. There was no one predictive thing that you could tell his children about. Or you could say that
as long as Mark is healthy , the family history does not really matter, does that make a difference as to
whether you would tell or not.
Q:How much could be corrected by nutrition , benefitial living .
With heart disease there is nice evidence of this being so and maybe genetics plays a smaller
input,. People often have a tendency to think it is all down to genes, so passing on sperm requires you to
pass on all family history . When Nuffield Bioethics put this out to pubklic consultation , an
overwhelming response , everyone said got to disclose everything even if it was not particularly genetic.
A strong sense that sperm passed everything on.
Q: It seems a way of absolving yourself of responsibility as to your own healthy living. they may have a
reckless lifestyle ? I think we should stop ourselves wanting someone else to be responsible for our
health or whatever, blaming someone else.
I didn't want the question to go in the direction of blame or responsibility , just would this be useful
for a donor conceived family to know about.
Most thought hat if it was something not very predictable then less of an onus to pass on the info.
Should the info only be passed on if you are sure it would affect the medical management of a donor
conceived child, now orin future. Lots of difficulties about going back to a donor conceived famioly
and saying that the donor , at the time was healthy , has found out other things. And maybe more worry than
benefit. So limiting to disclosing where something can be done , woiuld that be the preferred option.
Q: By the time someone is 18 the info maybe lost?
The NHS is so bad at keeping records for a long tiome that I'm not confident that in 10 years
time the info could be recalled , when someone needs to know about it. A valid point , from
someone who has worked in it for some time.
Majority say yes. Its the medical management that determines it should be disclosed or
A baby in the care of social services for adoption . We know nothing about the father , mother
not helpful as not in agreement withthe adoption. The social worker involved thinks the
baby is not white . In babies that is often difficult to tell exactly the racial mix but becomes clearer
as the baby gets older. The social worker asks for DNA ethnicity testing to determine which
adoption parents would best match so a mixed race couple rather than white couple.
You may think this is a rare circumstance but actually its not. An increasing number of these sorts
of requests. I think fuelled by the same press furore as over other types of genetics.
Social worker had been told the price was only 200 pounds, cheap given the price of
other sorts of medical tests, she thought it was wise use of money. You get back a certificate that gives ratio
of likely backround in the groupings European, sub-Saharan african,E Asian and native American.
I've never seen such a form where someone is 100% one of those groupings as we are all a mixture
of different races as ancestors migrated across the globe over 7 miullion years.
Mainly white faces in this room so European most likely , but even with 1/4 sub-Saharan , may
not be reflected in your skin colour. So getting such a est will not help a social worker know
how to place the baby . I give this example as there is the pervasive view that DNA testing will
give a precise answer about whatever question we've got.
Do you think a DNA result will help in the placement decision
Q: You said its difficult to tell with a newborn baby , are you saying gross appearance
differences of skin colour may appear within the early months or years of life that are
not apparent with a neonate?
I'm not a paedetrician but what I wa stold is what they are looking for is whether they
have a Mongolean bluespot , a very unPC term . A spot on the forehead that appears in the
neonate and then disappears, not actually indicative of any particular race but its a thinking that
it is more non-white. So a non-evidenced basis for her thinking that the baby's father may have been
Q: Do you get say 50:50 European , sub-saharan?
I recommend against the use of these tests, as they don't tell us anything about our
immediate ancestors , more where our ggg....grandparents were from. This test does not help
at all for this scensario.
Q: Isn't the idea behind that test practising eugenics ? and so should be illegal?
I agree , making something illegal takes years but we do have professional guidelines and
this is not recommended
some think it would be helpful test , but majority no
Ethnicity is not really about your racial background , its a social construct , that tells about
religion , geography and a bit of racial ancestry but it would not help the social worker.
1/4 sub-sahara, 1/4 european , etc won't help her find representative parents, a real
Q: Coming at this from an opposite direction. My brother's wife is Japanse and they could not have
children. When they came to adoption they specifically wanted to adopt that loooked as though
it were theirs ?
I can understand that. People who adopt don't want to be constantly asked , is that child theirs.
Its not the same scenario. This is saying I want to know where to place this child for adoption,
but using the wrong test for that decision. There is a view that genetics is much more deterministic
than it really is.
David is asked to be tested as his father and sister died at a young age . David has abnormal ECG
, he has inherited a faulty gene . He has 13 close relatives , but not in contact with them all .
Should doctors try and contact all the relatives. There is a video clip of a footballer
collapsing on the field, his legs twitch and then he gets up again. He has an implanted
cardiac defibrulator that fires off when he has a rythym abnormality and he only had that because
he knew of the family history, and that prevented him from dying. So an acute example. The
first sign of this in an individual is sudden death, not some chest pain or paltations.
Marathon runners dropping dead and then retrospectively this condition was found.
So with forewarning then beta blockers or a subcutasneous defibrilator will take care of the
Majotity, does create more of an onus on health professionals to try and contact those
People used to talk about something being in their blood, now about something in their genes
and now in their DNA . Such statements sound precise but we are no nearing to testing
for musicianship , say, in DNA than in blood.
Q: An ethical minefield you've exposed here. Is there precedents for this sort of thing from non genetic
area of medicine? Go as a blood donor and your blood is screened for AIDS etc, if they find it do they tell
We can learn a lot from infectious diseases. The guidelines say that if you as a professional see that s
omeone is at risk from HIV because you know your patient has HIV and you know he
has been sleeping around and putting people at risk or they are a blood donor , then the law clearly
says that you have a duty to protect the public, to stop them being put at risk without they're
knowledge. The GMC guidelines now do tell us , if you know that someone else is at risk, you
know who that person is , and the patient is not disclosing relevant info to them then you as a health
professional may contact them . That is helpful but the most cmmon reason why communication
does not occur is not because someone is being awkward but just because it doesn't happen
and then knowing when we can say something is the problem. The service is focussed on
preserving medical confidentiality, a lot of recent scandals , where someone's confidence
was breahed . Giving out familial information may breach someone's confidentiality.
If we may be giving out familial information we are asked to get a signed consent form. If this info
is rlevant then you can disclose it. Most of the people I see , say of course you
can disclose it, why am I signing a form, its the reason I am here .
I'm not coming here to find about my family hitory and not tell my family. There is a mismatch
between what the health professional thinks it can or cannot do and what the expectations of
our ? are. There is a difference between being in contact with someone with an infectious
disease and being at risk in 20 years time say from something inherited , and a risk rather than
Q: If I developed antibodies that meant I could not contract blue-spot disease or
whatever , you discovered it , would you be able to patent it, would you need to ask my
permission, or is this just an American thing?
The quick answer is no. Personally I would not want to try. What has happened in the past
, its difficult to consent in advance to something that emerges in the future. The Heeler? cell-line of
Helen Lane ...
(From the floor) Helen Lane was the name given to her as representing a nice name of person and
did not want to let it be known that she was black, by using her real name. I can't remember
her actual name.
So, her pseudonym Helen Lane , she had cerviacle cancer at a young age . In those days consent
would not have been considered in the 1950s. THe pharmaceutical companies eventually
got hold of her cell line , where you keep the cells copying and copying, and made huge
profit out of it. I think her descendents have been awarded large sums in recognition of that
fact. But the initial court cases decided that they did not have a right to any profits because
the profit came out of scientific input into the cells rather than the cellls themselves.
That is the USA, what about this country?
Patent law is worldwide . I know nothing about patents but it is a rapidly changing situation.
Because understandably there is uproar over companies preventing use by other people.
The counter argument , we need pharmaceutical companies and private investment
into healthcare because we don't have investment otherwise. If companies cannot protect
their own input , via say patents, they will not invest in it.
Q: Most ofour DNA is in the nucleus but a little bit in the mitachondria , is that of any
significance in terms of inherited conditions?
Yes, only inherited from the mother .
Are any well known that I may have heard of?
I se a steady trickle of them but all individually incredibly rare. Each is well described and each perhaps
1 in 100,000 .
Q: The sensationalist headlines in the press, of genetics and committing crime . Is there a higher prevalence
of certain genetic conditions amongst criminals?
I think impossible to answer accurately . There has been a lot of reports about certain conditions being more
prevalent in pprison populations that have not stood the trest of time. When redone or looked at again
with more data then the headline disappears.
Huntingdon's disease may be a good example where you get early onset of dementia , often with a
history of violent behaviour with it. So perhaps more likely to end up in prison. The only people I've seen with Huntingdon's disease
have been in prison, so that may lead me to believe there is a connection. You could say it is a result of society's
slowness to diagnose Huntingdon's disease.
A high incidence of dyslexia in prisons does not argue that there is a genetic component to it. You could
argue that people with dyslexia have a greater sense of frustration at not being able to communicate.
Environmental circumstances rather than genetic. Its so easy and quick to think something is genetic when there might
be an other explanation. Its easy to think that if its genetic then it is out of our control, can't
be blamed for having the wrong diet etc. There is a tendency to become genetically deterministic
because no blame attached. Thats me hypothetising.
Q: Could you explain to me how the pharmaceuticals are trying to patent genes?
Not my area of expertese . What they have done in the past and now much harder to do but are still
dealing with the cases that happened in the past. Somebody found a gene , then this combination of
nucleatides , we've discovered, and anyone who wants to test for it , they have to pay us a premium
to do that. You may say that is outragious but that is what has happened. Less likely to happen now but
they still find ways around it. They can't patent the DNA but they can patent copies of the DNA, I'm not
sure how it will pan out. The high court in the USA recently overturned the patent laws bu tthe small
print has not been worked out .
from the floor - the counter of that is that the pharmaceuticals will not put money in if there is no return.
A reasn for the lack of new anti-biotics coming on the scene is the drug companies say that an antibiotic does not last
very long , because resistance emerges, so we won't develop new ones as we won't get our money back.
Q: In gene therapy wher ethe pharmaceuticals have discovered that if they can give you some medication
to correct a faulty gene , will that be patented like a medicine?
Gene therapy is whare you change the gene itself. Very much in its infancy as to do it effectively
needs to be done at sperm and egg union stage. Lots of ethical issues associated with that.
You can get a gene fault that you know , if you treat it with a certain medicine , its affects
are less. Examples are certain types of cancers where the cancer prodces a faulty gene rather than being an inherited
falty gene . The drug companes make an antibody to that gene , to kill off that cell specifically.
Very promising results in certain cancers . One is a form of lung cancer where a small proportion ,
maybe about 5% thjey express a particular factor on the cell , throw an antibody against that , the
cell is killed . So a routine test that is done to see if you have that particular gene change but its
not a heritable gene change.
Can you change an inheritable gene?
Theoretically or technically you could but only at the egg and sperm stage , otherwise you have
to get to all the cells in your body all 10 to the 13 of them, you can't target them individually.
So you have to get there before the copying to all the daughter cells.
Q: Do they know how to switch genes on and off yet?
Sometimes ,sometimes in mice only , or test tube only but not in humans . We are complex and switch one thing
off it may only make a difference when we are 2 rather than aged 30 . Change one thing and you can set
other things out of balance . Some gene changes are bad in one sense but good in another . I
started my career in genetics on a south Pacific island where I studied a condition that gave you
anaemia , red cells broke down, but with that gene you were better protected against malaria.
For genes that do bad things, we don't necessarily know what if any good side to that gene is, explaining why
they are still present in the population.
Q: I've heard the term epigenetics and wondered if it has any influece on the nature/nurture debate?
Epigenetics is not as straightforward as the genetic code its also about how that code is switched
on and off. Some genes may be on in some cells and not others or active early but not later in life.
Q: Could it be the environment ?
Yes. We know for a fact that things that happen while you are inside your mother's womb
affect the control switches around certain genes . So that epigenetic load has consequences for the
next generation but not transmitted i nthe same heriditable way. What your grandmother ate
is important to your risk of heart disease , paternal grandmother I seem to remember.
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