Monday, 4 October 2010

I've not disappeared...

Blogging currently on hold whilst I concentrate on my two other full time projects.

Sunday, 15 August 2010

My cancer scan results

There has been a recent proliferation of DNA profiling write ups (a list of eight reports at end of this page), here’s mine to add to the pot.

I can claim a degree of novelty – my test was carried out by the Icelandic genomics giant deCODEme, rather than the more ubiquitous 23andMe. I also promise to keep nothing back, I have copied every shred of my raw data directly into this post.

Given my DNA is in part owned by my family, I was not planning to divulge all the results. But investigating the raw data has made me comfortable that what lies underneath holds no great secrets.

I took the cancer scan, which generates risk assessments for seven common cancers. The results are revealed one at a time, like flipping cards in a hand of morbid poker.

Here is the first one:

The 1.0 in the middle of the bar is average risk, anything lower and greener is good, to the right and red is bad. So this is good, and as I click through the list my heart rate increases and my palms become clammy.

I feel like I’m on a roll now, how long will the luck last?

A great result as I have a family history of breast cancer.

I’m now aiming for a full house, so the next one is a letdown:

I hadn’t picked up that being female I would only get six and not seven results. I had even spent time thinking through how a high risk prostate cancer value could affect my close male relatives.

The rush of luck is over - the remaining three results sit close to the centre line (although I struggle to gain any extra insight from the numbers being quoted to two decimal places):

Each result was preceded by a critical health information page which I dismissed without reading (the first time guiltily, subsequently with abandon). My brain was viscerally primed to uncover my cancer risks and I was too impatient to digest details.

Later, when I had calmed down, I had to hunt around to trace the information again, and the option of accessing it straight after the results would have been useful. This illustrates a key dilemma in dispensing genetic information direct to consumers – how do you ensure they read the small print?

I was keen to download my raw data to see what was behind the headlines. After spotting a warning that scan results could contain one million lines of data, I pressed the download button and went to make a cup of tea. The file downloaded instantly, here it all is:
Unlike the more extensive complete scan offered by deCODEme, the targeted scan is highly focussed on the individual DNA base pairs proven to influence cancer risk. The table shows that 33 positions (SNPs) were examined in my DNA. Each individual cancer prediction is compiled from between 2 and 12 of these data points.

In terms of base pairs for your buck, the test does not score highly, and it won’t be long before the $500 USD price tag will buy me all my 3 billion bases rather than just 33 select ones.

The test's real value comes from areas in which deCODEme excel: the painstaking discovery of meaning hidden in sequence muddle and the careful communication of the resulting risk factors.

Finding even a handful of SNPs that reproducibly effect cancer risk is a tour de force of genetics. When I drill down to the peer reviewed papers behind each data point I can see that deCODE genetics have carried out the bulk of this work. The scientific details reveal a mountain of research, with data from tens of thousands of people used to define each SNP.

To understand the significance of my lower risk results I need to take the population frequency of each cancer into account. For both bladder and breast cancer my lovely green arrows translate to only a small decrease in absolute risk. Combined with the three results clustered around 1.0, this makes me a resounding Mrs Average for five out of six of the cancer types.

Only basal cell carcinoma is left. This gave my biggest risk swing and is the most prevalent of the cancers tested, affecting 25% of the population. The results reduce my personal risk to 16.5% – the only number in the whole test that stands out.

The decreased risk is reassuring but will not make me lax about using sunscreen. If anything the numbers have made me more vigilant – I didn’t realise that basal cell carcinoma was so prevalent. And despite this being is my lowest relative risk, the high background level means it is still my highest absolute risk.

However, even for the basal cell result, any sense of deviation from the mean disappears as I drill down to the three constituent SNPs. All are pretty average too – each present in more than 40% of the population. Individually they confer a slight decrease in risk, and it is only their combination by multiplication that gives an overall risk well below average.

By exploring my data I feel like I’ve descended from the heightened emotion of the headline results to a baseline of bog standard DNA. It is the very ordinary nature of the data that makes me happy to share everything here.

Although it is boring to be average, this is one time I’m thankful to be part of the crowd. Middling results are by no means guaranteed – you could learn you have 2.3 times the background risk of breast cancer (giving a lifetime risk of 28%) or over four times that of prostate cancer (lifetime risk of 66%). For a minority of customers, the results could be far from mundane.

For me, the process of taking the test has been much more educational than the test results themselves. The deCODEme website is full of well presented pre- and post-test information, and their email support has been prompt and factual. The scan has made me mull over ownership of my DNA and I’ve been inspired to look into my family history.

Even if genomic fatigue sets in and we tire of hearing about other people’s genotyping results I don’t believe we will ever stop being fascinated by our own, even the bits that are rather bland.

Related posts:

A review of the Association of British Science Writers genetics testing conference session

Questions to ask before buying an internet genetics test

The test was donated by deCODE to the Association of British Science Writers for their annual conference.

Sunday, 25 July 2010

Genotyping journalists

Take a bunch of journalists and ask them to undergo genetic testing - the outcome was always going to be entertaining. This was the part of Friday’s inaugural UK Conference of Science Journalists, held in the opulent surroundings of London’s Royal Society, that I was most looking forward to.

The public testing was part of the Future of Genomics session, organised by Zoe McDougall from the sequencing technology company Oxford Nanopore Technologies who provided sponsorship.

The testees to be paraded as genomic curiosities were Ed Yong, Martin Robbins, Claire Ainsworth and Mark Henderson. Three broad themes emerged from the resulting spectacle.

Firstly genotyping is confusing, no matter how impressive your scientific credentials. Claire Ainsworth has a PhD in fly genetics, Ed Yong writes a renowned biology based science blog, and Mark Henderson knows at least 50 genetic ideas that you really should too. Yet the panellists were all bemused or overwhelmed by at least some of their data. This is not criticism of their expertise but an indication of the complexity of the information involved.

Mark was genotyped by 23andMe, deCODEme and Pathway and has written in detail about his experience (subscribers to Times online content can read his three blog posts). The tests identified an increased risk of exfoliation glaucoma, which he knew from family history, but the companies differed in their estimate of background risk, leaving Mark perplexed:

How prevalent is exfoliation glaucoma, and how much do I need to worry about it? If 23andMe is correct, then even though I have a high risk genetic variant, my overall risk of this condition remains low. If deCODEme is right, I have a one in three lifetime risk. And if Pathway is right, the population risk is low, but the peculiarities of my genome dramatically enhance my chances of getting it.... I am now a confused customer!

Ed, who took the 23andMe test, has also blogged about the experience. He initially took his cystic fibrosis big fat negative at face value, but a genetic councillor quickly got in touch to explain the results were less clear cut. The test was for the most common cystic fibrosis variants, but over 1000 have been identified giving the potential for false reassurance. You can follow the discussion in Ed’s post comments, and there was a swift response from 23andMe.

That Mark and Ed were willing to share their results gave them the opportunity to receive input from experts. Mark sent his data to be analysed by Daniel MacArthur, researcher from the Sanger Centre, author of the influential blog Genetic Future, and presenter of the opening talk at the session.

Daniel’s analysis (further details in Mark’s second post) showed that out of the 554,618 variants called by both 23andMe and deCODEme, there were differences in only 77, giving an error rate of 0.007%, far lower than conventional diagnostic kits on the market.

This open-access sharing and caring model is just what 23andMe encourage with their community membership and genotype comparison technology. And, as Mark and Ed found, this is a productive way of navigating the information tangle.

But the testees’ own genetic knowledge and their ready access to experts are not shared by every consumer. As Ed pointed out, you cannot fault the information that 23andMe provide, but you need time and knowledge to take it on board.

My second theme is that genotyping generates emotions as well as information.

Testee Martin Robbins, who doesn’t possess a genetics background, was more illustrative of your standard genomic punter. He described the impersonal result screen as like facing a “wall of death” and said he found the whole testing procedure uncomfortable.

His test, carried out by Navigenics, identified an increased risk of Alzheimer’s, which as Martin pointed out will be shared by at least one of his parents, neither of whom consented to be screened.

Martin also highlighted fears about data ownership and protection from hackers and third parties such as future employers and dating sites. This was raised later in the session by Alison Hall from the PHG Foundation, who discussed the conflict between consumers posting their haplotypes on Facebook sharing their data online and the fundamental principles of data security and confidentiality.

Claire was the most circumspect about the test, phoning her parents in advance to gauge their thoughts on being indirectly genotyped. She also choose not to disclose all the data, feeling the information was not hers alone to share and pointing out that today’s innocuous variants could be tomorrow’s risk magnets.

Although the testing provoked a range of emotions and there was much talk of hypothetical dangers, no one seemed to regret having taking the plunge. This is in line with the general lack of concrete evidence for damage caused by consumer genetic tests.

My final point is that the tests provided more fodder for jokes than they did undercover meaningful clinical insights. Ed’s blog post is full of smart gags (a hypothetical love child with Mark, science writer disease risk top trumps and too much talk of wet earwax). My favourite wisecracks from the session were Claire’s disappointment that her phenotype was less sexy than the dark-eyed curvy genotype prediction and Martin’s dismissal of his increased prostate cancer risk given his expected Alzheimer’s oblivion.

Ed’s results gave the starkest illustration of the insignificance of much of the potentially non-trivial information. Most genetic studies have been carried out on Europeans, so his Asian ancestry meant that his risk predictions are currently very unreliable and practically useless. But Ed now owns a copy of his genotype so will be able to uncover future associations as research becomes more geographically widespread.

There was also a genetic councillor, Christine Patch, on the panel who outlined the differences between the targeted clinical tests provided by the NHS and those of low predictive value available direct to consumers. For example, the NHS do not screen for the Alzheimer’s variants flagged in Martin’s results as the tests are not deemed clinically useful.

My only criticism of the session was that there wasn’t room on the agenda to explore the implications of full genome sequencing. James Brenton, from Cancer Research UK, hinted at the future complexity in his presentation on cancer genomics. He described research showing genetically distinct populations of cancers cells present in different locations of the same tumour, and how the populations evolve and shift in response to therapy.

Neither was their time to discuss the previous day’s US hearing on regulation of the direct-to-consumer genetic test industry. If Daniel MacArthur was tired from staying up to post his analysis of the events on Genomes Unzipped, he didn’t show it.

The rest of the day was equally stimulating, a raft of expert speakers and bubbling discussion. There was much talk about the role of bloggers, social networks and cyberspace review. If the web provides an audience for newcomers typing from their kitchen table then this conference was equally inclusive. The day was made accessible by the efforts of British Association of Science Writers members and sponsorship from Elsevier and others.

Other conference attendees received genotyping kits, not all could present on the day. I am waiting for the results of a deCODEme cancer scan which will go in a separate post, and I will update this post with any links to others who share their experiences.

For me, it was a full, blissfully child-free, day immersed in science and new communication technologies. I left with a humming mind and a curiosity about what story my DNA would tell.

Monday, 12 July 2010

Children and genomics - the underworld of DNA talent testing

My last post looked at how direct-to-consumer genetic testing companies promote the testing of children. Here I explore the shadowy underworld of genetic talent tests.

There is a clutch of companies who market DNA tests to children without the backing of real science. They hail mainly from Singapore and China and their marketing machines are getting slicker.

My Gene Profile has now created a reputable looking front-end which contrasts to their original flaky website featuring a mohican baby. They are based in Singapore, but list offices in the UK (Haslemere) and US (Connecticut).

Their newer homepage has an amusing picture of two scientists looking gobsmacked by a cyclohexane molecule (which I presume is meant to be a nucleotide). The rest of the site would also be hilarious if it wasn’t for real. They offer an “Inborn Talent Genetic Test” and a “Disease Susceptibility Genetic Test”. Drilling down to the talent test gives a list of 40 genes (2/3 of the way down this sprawling page), including such gems as:

Propensity for Teenage Romance Gene
Drawing Gene
Self Detoxifying Gene

The new URL still hides links to scam-like behaviour, for example add /vip to bring up information sent to targeted individuals last year:
Make Biggest Commission Paycheck by Riding On World’s Fastest Growing Industry: DNA and Genetic Market!
Another Singaporean offering, Map My Gene, sells the same two tests. Francis Collins and Robert Plomin (Professor, Kings College London), are quoted as offering their support. The company ask for a copy of your passport or identity papers to be submitted along with your DNA sample – a frightening combination to part with.

Again from Singapore, Magic Fidler is a company running children’s music classes with a sideline in DNA testing to determine musical ability. The number of tests offered is a familiar sounding 40:
For $2,000 the scientific results can pinpoint your child’s strengths and weaknesses in 40 areas, including IQ, EQ, memory as well as artistic and athletic abilities. For $2,800, you can get the DNA Test plus 12 weekly music classes.
The music teaching may well be wonderful, but the science is not. The site testimonials summarise all that is wrong with this approach (based on children tested in January 2010):
“My first reaction was: ‘Are you sure this is my child?’ Kiran (aged 7) scored very high in intelligence and creativity, but I always thought he was just average....While he likes singing to pop songs, he’s never expressed an interest in music lessons. So I was surprised that he has a good sense of rhythm and is supposedly good at learning different instruments."
“What surprised me was that it didn’t show up in his DNA that he has a flair in maths. I always thought that he is quick at understanding concepts, which even the elder sister has difficulty understanding.”
“Since we received the results, my husband and I had many interesting discussions about our girl (aged 2). Isn’t she supposed to be talented in arts? (She’s always doodling!) Well, it’s not in her DNA. Didn’t she learn to walk only after 15 months old? (A friend’s kid of the same age was already running around.) Yet, the results showed she has a natural flair for sports, with high endurance gene."
The music school act on the spurious DNA results:
“If the child’s DNA results show that he has strong genetic propensity for music and creativity, for instance, he might be put in a more intensive class, which teaches composition skills.”
The tragedy is that such results (which may as well come from a random number generator) lead parents to dismiss the best way of finding out about their children’s talents – their own observations.

Finally, a couple more quotes to further illustrate the potential influence of such information. Firstly from The Genetic Center who sell a “Child Talent Gene test”:
"This child is very thoughtful and focused," Shanghai Biochip's Healthcare Director Huang Xinhua explained while looking over a girl's test results. "I suggest she go into management."
Secondly, the American Atlas Sports Genetics who sell a test based on the ACTN3 gene:
“Although, my daughter is only 9 she now knows that she had a the Sprint, Power, & Strength advantage which we can use to market her Athletic Career and hopefully a wonderful scholarship from this process.”
Note that the parent wants to market the child – has genetic testing turned her into a commodity?

For now, such websites will only affect those credulous enough to believe the manufactured science. But the genomics juggernaut is on a roll, bringing with it more robust links between personality traits and DNA sequence. When predictive testing finally comes of age, should we allow children to be tested? And if so, how will we ensure that eager parents are aware of the caveats, subtleties and statistics that hang off each data point?

Wednesday, 7 July 2010

Marketing direct to consumer genetic tests to children

I’ve been looking at the websites of main-player consumer genetics companies to see if they promote testing of children. I’m driven primarily by curiosity, rather than the belief that such testing is necessarily wrong.

A quick survey of the type of people used in promotional website photos is a good way to gauge intended audience. Staid lab-coated researchers, trustworthy medics and wealthy, aging Caucasians feature most often (e.g. deCODEme, Navigenics). 23andme breaks rank by featuring a non-white girl, father and baby. Knome is light on the photos (but if you can afford the price tag you are probably not motivated by identifying with a target consumer group).

The official Pathway Genomics site has a scientist at the bench, along with a picture of a young couple presumably undergoing prenatal counselling. In addition, they sponsor a separate site, called My Genes My Child, that has a very different focus. It contains a fairly balanced discussion of the risks and benefits of testing children, with prominent, unbranded adverts taking you direct to Pathway. My Genes My Child is managed by an organisation called morefocus, who claim not to accept editorial from their sponsors.

In fact, there is a list of similarly sponsored Pathway sites, each with a slightly different twist:

Genetic Health
Nature and Nurture
Adoption DNA
Family Helix
Ancestor DNA

The genetic testing of children can touch a raw ethical nerve, which is maybe why children don't feature on many corporate websites. Even those who are liberally minded about adults exploring their DNA may feel a little uncomfortable where children are concerned.

Adults can choose to test, whereas children may not be mature enough to deal with the consequences. The availability of direct to consumer, rather than physician mediated testing sharpens such concerns. There is the real fear that labelling a child with some sort of “DNA destiny”, especially in these early days of scientific unknowns, has the potential to be detrimental to their upbringing.

23andme seem to have ridden roughshod over any such hesitations. They have no concerns about featuring children on their corporate site, and indeed they encourage the testing of extended families to uncover generational DNA interplay. And they seem to be selling something that people want to buy.

Babies always exert a stronger pull on the ethical heart strings than older children. Although 23andme have a cutesy baby on their homepage, an FAQ warns of the difficulty of collecting sufficient saliva from under threes (and so sidestepping any ethical concerns for this age group).

But there are other ways to get DNA: I have just sent off a DNA sample to deCODEme, and rather than spitting I had to scrape a stick inside my cheek. I reckon I could collect my 20-month-old son’s DNA this way (yes, it would be a struggle, but no more than the twice daily teeth brushing battle).

So, it seems like most genetic testing companies are not overtly promoting testing to children, with the exception of 23andme (who do not appeared to have suffered as a result), and Pathway whose anonymous approach may have slipped under the radar.

Regardless of your views on the promotion of direct to consumer genetic tests to children, it is happening. At least the main players are backed up by sound science and peer reviewed research, which cannot be said by the proliferation of more disturbing child talent sites – more on these in the next post.

Tuesday, 29 June 2010

Questions to ask before buying an internet genetics test

The Human Genetics Commission has produced a list of questions to ask if you are thinking of buying a health related genetic test over the internet.

I will run through the questions while I am waiting for my deCODE cancer scan and my NHS BRCA test. There are two sets, I’ll answer the first in this post.

1. Why am I considering taking this test?
I'm taking the test because I'm interested in consumer genetic testing and in sharing the experience, I'm also intrigued to know what my cancer markers have in store. DeCODE do not test for BRCA genes but for common variants (SNP markers) that can increase risk three fold from average (that is up to 37% lifetime risk, compared to the more dramatic 55-85% risk for BRCA). The deCODE information is to some extent complementary to BRCA testing, all be it less clear cut.

I have no immediate medical motivation to find out about risks for cancers other than breast, given that I am under 40, have a reasonably healthy lifestyle and no untoward family history. I am, however, very excited about being part of the consumer DNA experiment and fascinated by the implications for society. I would love to have my complete DNA sequence but I’m happy to wait until sequencing costs come down and science fills in some of the gaps.

I have been researching the rival screens sold by 23and me, which I admit to finding tempting, the full list of tests is here. The trivial stuff (such as memory, pain sensitivity, avoidance of errors etc) is alluring in a pop psychology kind of way, the drug response information would be useful, the ancestry tracking looks enticing and now I’ve had my kids I could cope with the carrier status data. It does all seems slightly shallow, and drilling down to the disease information details reveals fewer markers than deCODE, which would explain the cheaper price. But overall it gives me that tingly hover-over-the-buy-it-now button feeling that precedes the desire to purchase something expensive online.

2. What do I hope the test will tell me?
I hope that I will have a low or average risk profile for breast cancer, and a low risk for the other cancers.

3. How important is it to know what the test may tell me?
Taking breast cancer separately, the outcomes could be crudely divided into 4:

a. Low deCODE marker risk - High BRCA risk
b. Low deCODE marker risk - Low BRCA risk
c. High deCODE marker risk - High BRCA risk
d. High deCODE marker risk - Low BRCA risk

[Although for the deCODE markers I’m unlikely to get results as clear cut as high/low risk, but numbers in between]

Using this to answer the question:

Scenarios a and c – deCODE test not that important compared to positive BRCA
Scenario b – deCODE test adds some extra reassurance
Scenario d – despite not having BRCA, a high deCODE score would reinforce my family risk

I’ve crudely defined “importance” as how much I’d change my behaviour. Based just on my family history I’m already trying to lower my risk (diet, exercise, self-examination), but I’m not hyper-vigilant - a high risk for either BRCA or deCODE markers would lead me to investigate early scans and preventative medicine. However, the whole hog mastectomy/ovary removal option could not be justified on the basis of profiling SNP markers. Would the NHS offer me breast scans at a younger age if I am low risk BRCA but high risk according to deCODE?

4. Will the test be able to answer my question?
The tests will give me more information on my cancer risks, but I'll wait to find out if they will add much more to my risk profile over and above that already in my family history.

5. What do I hope to be able to do after getting the test result that I can’t do now?
If I have high risk deCODE markers then I will take action (but perhaps I should be suitably motivated by my family history). In terms of the other cancer types, having a higher risk of skin cancer would make me more away of the amount of time I spend in the sun.

6. What if I get a result that I am not expecting?
I am expecting to be moderately high risk for the deCODE breast cancer scan, but not to be in the top risk band (that would involve markers from both sides of my family, and my mother’s relations have no history of early onset breast cancer). Being in the top band would take some getting used to.
It would be a shock to be higher risk for the other cancers for which I have no family history – I have the mindset that I am low risk for these.

7. Would it be a good idea to get professional advice (e.g. from my doctor) before buying the test and if so how can I get it?
I saw my GP to get referred for the BRCA test. I didn’t ask about the deCODE test but I doubt he would have recommended it or even been particularly familiar with the genetic markers involved.

8. Will the information the test provides have implications for my relatives?
The BRCA test will have more implications than the deCODE markers for my children and sibling, plus the children of my affected aunt. But the SNP risks will still be relevant to my immediate family, especially if there are any increased risks.

9. Am I going to tell them? If so, how?
I’m hoping the results are low risk so I won’t have to deal with this – if they are high then I would tell my brother (but would he want to know?). My sons are too young now which postpones the decision. They are likely to have access to their own DNA sequence by the time they are old enough to understand. If they were older now? I'm not sure I would say anything until they were adults, and I worry about the scope for nagging refrains such as “with your DNA your really must eat your broccoli”.

10. Will they want to know?
I can ask my brother if he wants to know, but I will only ask if there is a high risk, so the act asking may change his answer. Although, of course, I am blogging about the results...although I don’t have to blog ALL the results. Thankfully kids too young to read the blog...

11. Ought I to discuss this with them beforehand?
Hmm, too late now. Buying the test was very much like buying anything else on the internet, an individual consumer decision: it's my DNA and I can do what I want with it. This is even embedded in the company brands – 23andme, deCODEme. But buying a DNA test is actually one of the few consumer decisions that is not me me me.

12. Do I need to take the test now?
I could wait for the price to come down and the science to progress, although the BRCA test is urgent as I’m older than my grandmother was when she was diagnosed.

13. Is there another way of finding this information out?
Arguable my family history gives as much information as the deCODE markers are likely to. There are swathes of studies correlating the SNP markers to disease sufferers, but are there any correlations between markers and the family history of healthy individuals – i.e. which is more predictive of disease outcome – looking at common SNPs or looking at family history? It somewhat depends on the size of your family – expansive extended families contain much more data.

14. Would the result of the test have any impact for my work or my insurance prospects now or in the future?
There is currently an insurance moratorium regarding use of genetic information in the UK. I’m self-employed but don’t see that an employer would need to know.

Posting answers to these questions has forced me to think about the test in more detail than had I worked through the responses in my head. I suppose this has been a DIY genetic counselling session. Nothing similar was pushed at me when I ordered by kit from deCODE, which makes sense from a commercial point of view, but I wonder if some families have struggled with nasty genetic shocks that they weren’t expecting.

Thursday, 17 June 2010

Going Private

Today I am in possession of a promotion code to order a free DNA testing kit from the Icelandic company deCODEme. Six kits are being given out by the Association of British Science Writers for the “Future of Genomics” strand of their forthcoming London conference.

I choose the cancer screen, clicking past the $500 price tag. Ordering is easier than Amazon – no family trees or consent forms. Given the recent sample mix up at rivals 23andMe I wonder if I will be asked any questions (such as gender) to enable a simple cross-check, but the online form is minimal.

I tick the “sign your life away” boxes and open the Service Agreement (which I normally ignore). It includes the confirmation that the sample is mine or belongs to someone who has agreed to have it taken, plus a few interesting bits:

“Users’ Settings, public or private, will be used by deCODE to gather statistical aggregate information about the users...such analysis may include, but is not limited to...associating genetic variants with any of the self reported user attributes.”In other words, I am providing data to help deCODE’s research projects.

“You acknowledge your understanding of genetic risk as a statistical measure that has implications derived from a large group of people with characteristics equivalent to yours but does not determine your chances for getting the corresponding disease, the disease severity, or the disease outcome.”I’m hoping this will be pointed out again further down the line, in a place where it is actually likely to be read.

“The Genetic Scan product is for informational purposes only, is not medical advice, and is not a substitute for professional medical advice, genetic counseling, diagnosis, or treatment.”It’s a fine line....

I click through to the final page. DeCODE has been slowly sliding down into the commercial cesspit of precariously regulated direct-to-consumer genomic testing companies, and with Iceland’s economy as turbulent as their volcanoes I wonder if I will hear anything back.

Thursday, 4 March 2010

How it all started

Today I went to the GP to discuss genetic testing for breast cancer. Requesting a test has been floating around my mind for a few years, but now I’ve finished my family (my husband and myself have replaced ourselves, two is plenty), I’ve done my breastfeeding and I’m approaching 36, it’s time to make an appointment. The science behind genetic testing for familial breast cancer has been around a while now, but until recently I wouldn’t have wanted to know my risk. A positive test can mean an oophorectomy (a playful sounding word for the not-so-fun procedure of ovary removal), something I would not have been willing to go through prophylactically before having children.

My family history is quite simple. My father’s sister had breast cancer at the age of 45 and her mother (my paternal grandmother) had her breasts removed at 31 or 32. My grandmother never thought she had cancer, and there is no proof – at the time double mastcetomy was the standard, brutal treatment for any ominous looking growth. My aunt however, thinks her mother’s lump was similar in location to her own and the early onset in both cases makes a genetic link worth following up. There are no other cases, but then I have few female relatives (my sibling and cousins are all male, my father only has the one sister). On my mother’s side, there is the odd late-onset cancer, but nothing unusual.

The GP listened to my family history. He was unsure and had to check the guidelines – do I need a first degree relative suffering from early onset disease to be referred? I explain that this is impossible, seeing as any genetic predisposition is on my father’s side of the family and I do not have a sister. It turns out second degree relatives will suffice and he agrees to refer me.