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Ten questions for Lone Frank, author of 'My Beautiful Genome'

3 October 2011
Appeared in BioNews 627
Do direct-to-consumer (DTC) genetic tests empower individuals or are they a waste of money?

I believe the empowerment lies mostly in getting the consumer interested in genetics and getting them to engage with the developments in the field. Of course, some of the tests are quite actionable – markers related to a disposition for heart-disease, prostate cancer and a number of other illnesses which may be prevented by screening programs and physiological testing.

Is there a direct-to-consumer genetic test on the market that you would be hesitant to take for fear of the results?

I would say no. I have taken tests for BRCA-1 and 2, hereditary breast cancer and for ApoE-lipoprotein connected with elevated Alzheimer's risk. I was nervous – who wouldn't be – but personally, I would rather know of such risks than suddenly find out when a doctor slaps me with a diagnosis.

Do you think we can take the results of DTC genetic tests seriously yet? Or do you think there are some tests that are more clinically valid and useful than others?

Of course, some tests are clearly more 'recreational' than others. That you have blue eyes, wet ear wax or a flush reaction to alcohol is something you already know. But SNP (single nucleotide polymorphism)-information related to elevated risk for certain diseases is actionable as I've mentioned. An area that to my mind is underappreciated is the genetics of drug metabolism. There are several tests for how an individual metabolises a range of drugs and the US Food and Drug Administration (FDA) actually recommend that doctors use such tests before prescribing 70 named medications. But only about a percent of doctors do, it turns out. This is deplorable when we know that the wrong medication or the wrong dose is a significant cause of death.

Do you think members of the public should have access to research findings before they have been clinically validated? Is 'recreational genomics' a sufficient justification for such access?

Interesting question. You might also ask: should the public have access to all sorts of food supplements and alternative 'medicine' when their effects haven't been clinically validated? I don't think the current genetic tests pose a danger to consumers – the worst case scenario is that they get a disease scare and go to the doctor to have it cleared up. Clearly, genetics is a work in progress and we have the choice of using the best of the present knowledge or waiting till everything is figured out and clinically validated – doing the latter will no doubt take a very long time and cost lives along the way.

How would you feel about sharing the results of genetic tests purchased on the DTC market to your family or friends?

Personally, I feel fine – after all I have written a book where I share quite a bit of my genetic information. And as I express in the book, I have great sympathy for projects such as the Personal Genome Project where thousands of volunteers agree to share genetic and detailed health information on the web in order to create a giant research database with free access. As I stress: We are not our genomes. And I think that there are more advantages in sharing the information and thus making better research possible than there are disadvantages in keeping it under wraps. The much publicised fear of how employers and insurance companies might misuse a person's genetic information must be addressed by legislation.

Do you think the DTC market would be safer with regulation or would this stifle scientific innovation?

I am all for some kind of oversight – just like most industries. The basic accuracy of tests should not be in question and additionally, the whole industry would benefit from some kind of oversight that could weed out companies making wild and untrue claims about their tests. It's in no ones interest to get a reputation as a wild west. On the other hand, regulation should not be overly heavy, slow and expensive – that would stifle innovation. What do you think about the science of human leukocyte antigen (HLA)-typing behind genetic matchmaking services? What did you find when you took the test?

As I make clear in the book, the HLA-connection to mate preference is very unclear. Indicated by some research but in no way validated. When I have myself and two men - my actual partner and a colleague of mine – tested, it turns out my colleague who I've never been attracted to is the ideal partner. The reason I include this test is to show where we are heading. It is a sign of the times that there is a viable business here and that consumers seek out this service – it shows that they are already thinking about genetics in relation to something as deeply personal and important to life as romantic partnership.

What were the most worrying claims made by DTC genetic testing companies you found in the course of your research? Which were the most promising?

I found a horrendous example of right out fraud in a company that claims to test your child for 40 genetic variants and on that basis give you a guide to how you should bring up this child. What extracurricular activities to have the kid do and what sort of career choice he or she should make. Completely rediculous. That is the sort of consumer 'genomics' that should be weeded out by an oversight or control authority.

Were you satisfied that the scientific evidence provided on DTC genetic testing company websites justified their claims?

I must say I haven't done a comparative analysis of different companies. However, the scientific papers behind a range of the SNP markers used by deCODEme (the company I used for a SNP profile) and their connection to disease risk have seemed sound to me. After all, deCODE genetics is a highly reputable research institution whose publications on genes and disease risk have come out in the best journals.

Finally, do you think it useful or acceptable that parents discover genetic knowledge about their children at a young age?

 This is one of the questions I find it most difficult to have a firm opinion on. You can imagine a negative impact of parents being over protective because of insight into psychological sensitivity for example. But you can likewise imagine positive examples of parents learning about a serious disease risk and acting upon it preventively. My final analysis would be that the possible advantages probably outweigh the possible drawbacks. After all, our parents and our childhoods don't determine our lives.

2 April 2012 - by Ruth Saunders 
Last week the Parliamentary Office of Science and Technology (POST) released a POST Note - a guide for MPs and other parliamentarians on science and technology issues - on consumer genetic testing...
3 October 2011 - by Emma King 
My Beautiful Genome is the story of DNA told through one woman's quest to find out if the secret to her depression lies in her genes...
6 June 2011 - by Rosemary Paxman 
Direct-to-consumer (DTC) genetic tests provide an inaccurate prediction of disease risk and offer little benefit to consumers, scientists claim...
7 February 2011 - by Dr Marianne Kennedy 
Genetics is creating more confusion than the offside rule in pub conversation. Most of us had limited teaching on the subject at school or we may have left before Watson and Crick ran out of the pub that night with the structure of DNA on a beer mat. We are left to soak in the media murkiness and skewed views of individuals, which could one day influence important decisions on our health....
17 January 2011 - by Rosie Beauchamp 
A recent study suggests American consumers would be prepared to pay on average up to $600 for a predictive genetic test where no direct treatment is available....
18 October 2010 - by Ken Hanscombe 
Twelve members of the Genomes Unzipped project have made their personal genetic data publicly available online. By sharing their genetic data, the project aims to guide discussion about the risks, benefits, and limitations of genetic information, and the issue of genetic privacy...
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