Maybe I’m naïve, but last year I went to a talk our local library, which was billed as “a free educational evening on epigenetics, nutrigenetics, nutrigenomics, inflammation, methylation, vitamin D & more”, thinking that it was going to be a general academic talk on those subjects. Perhaps I was lulled into a false sense of security by the venue, or the fact that I was invited by an old friend.
In any case, for whatever reason, I certainly got the wrong end of the stick. I was horrified to find myself in a three-hour emotive and evangelical-style sales pitch for gene testing and analysis. The focus was largely on treating infertility – the speaker said that nearly all of her clients conceived within three months (wow, I was definitely in the wrong place!). But she seemed to be indicating that she could help with pretty much whatever ailed you, from autism to weight gain.
At the end of the pitch, audience members were subject to the hard-sell sales tactic of a 15% discount off the usual price (from memory, around $1000) if they signed up on the spot.
This whole experience raised so many questions for me, I couldn’t keep quiet. In fact, I didn’t keep quiet. With my endless, awkward questions I was a definite downer on the evangelical mood suffusing the room.
A big issue for me – which I will write about separately as it deserves its own post – related to privacy concerns around the data. What happens if the company is dodgy? Is hacked? Goes under? Sells the data to pharmaceutical companies or insurance companies? Is the subject of search orders from law enforcement agencies?
But there were so many other issues as well. Is it legal to advertise and sell these quasi-medical services directly to the public? I’d never heard of someone being able to order blood tests or MRIs or x-rays without going through a doctor. Is this area regulated? Is it ok for these services to be provided by private companies motivated by profit?
What about informed consent? The speaker spoke rapturously about a future in which we all get our babies and children gene-tested at birth. I think she said she had had her own babies tested. Can babies give informed consent? Do they need to? What if someone sends in genetic data in the form of saliva or other material from someone else (a spouse, perhaps, or a spouse-to-be) without that person’s knowledge? I wish I had known enough then to ask about the Human Tissue Act 2008, which provides that the collection or use of human tissue without informed consent can be a criminal offence.
And what about the fact that genetic issues, by their very nature, run in families? What if one family member finds out something that may affect other family members? Do the other family members have a right to know? Or not to know? And what happens if someone finds out something truly scary? Quite a few diseases, such as cystic fibrosis, sickle cell anaemia and Tay-Sachs disease, result from modifications in a single gene. The company running the talk I went to doesn’t test for monogenic diseases, preferring to stick to the woollier end of the spectrum, but others do.
And is the science sound? The speaker wasn’t giving the impression that there was any room for doubt. She kept saying that the scientific research backing the tests was amazing. There were a lot of beautiful graphics and long words. But could it be as good as she was saying? If so, why weren’t doctors and hospitals recommending these tests all the time?
So I dived deep into the rabbit hole, and lots of what I have read since is extremely concerning. I read a piece in a medical publication about a woman who had been to a “real” genetic testing clinic because there was a family history of breast cancer.[1] Her results were indeed concerning, and she took preventative measures. Subsequently, though, she received a genetic test with Google-owned 23andMe as a gift. The 23andMe test results did not show any elevated risk for breast cancer. The woman said that if she had done the 23andMe test first, she probably wouldn’t have ever got the “proper” test done, and discovered her true risk.
I read a Masters paper from Helena Jochem at the Victoria University in Wellington in which the author observed that, based on the current level of knowledge about the interplay of genetics, environment and lifestyle in relation to common diseases, the accuracy with which the tests are able to predict a common condition is low.[2] (Partly, this is because most companies don’t sequence the whole genome, but rather, search for various single nucleotide polymorphisms (SNPs).) Jochem also cites a US report which describes how the same genetic data, sent to different gene-testing companies, returned different results.[3]
I also read a 2010 report from the Nuffield Council on Bioethics.[4] (Now that would be a fascinating place to work!) They cited one review which found that there was insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalised diet and lifestyle recommendations.[5]
To me, it seems as though the whole field represents an unholy mess of real science, pseudo-science, heartstrings sales pitches to the vulnerable and the merely curious, fancy graphics and glossy marketing materials, plus plenty of lawyer input to commercialise the underlying model and to limit potential liability. As a result, it is difficult to separate out the wheat from the chaff. New Zealand seems to be lagging behind other countries in terms of regulatory oversight – hopefully the current revamp of some of our health-related legislation will make a start on this.
[1] “First, Do No Harm: Direct-to-Consumer Genetic Testing”, vol 21, No 2, Feb 2019, Genetics in Medicine.
[2] “Direct-to-Consumer Genetic Testing in New Zealand”, Faculty of Law, University of Auckland, 2016, p 10.
[3] At p 12.
[4] Nuffield Council on Bioethics Medical Profiling and Online Medicine: the ethics of ‘personalised healthcare’ in a consumer age, October 2010.
[5] Page 148, note 445.
