A quick post today, inspired by a fabulous essay by the redoubtable science communicator duo, Tara Haelle and Dr. Emily Willingham, on the possibilities and pitfalls of genetic testing and personal genomics in the Undark Magazine. It spawned a few, relatively random musings on this topic, admittedly a topic I have not hithertofore explored much. I wrote my thoughts as a comment after the magazine essay, but I don’t know if or when it would appear. So here they are, as a blog post.
I should begin by offering a Conflict-of-Interest disclaimer: Both Tara and Emily are my Facebook-friends, we follow each other on Twitter, and I regularly read (and often comment after) their columns at Forbes, sundry magazines and blogs. Tara is a science journalist par excellence, and Dr. Willingham is an accomplished biologist; both are parents, parenting experts, authors, and have recently co-authored a well-received book as a science-based resource for newly-minted parents. We occasionally do have differences of opinions on various matters, but they are two of my science communication superheroes.
With that out of the way, let’s turn our attention to the essay; the essential point (to my reckoning) that the authors are making is that the currently in-vogue practice of genetic testing is a double-edged sword. With the cost of the technology decreasing with time and advent of automation, genetic testing now runs the full gamut from checking for a few defined genetic markers to the complete mapping of an individual’s genetic complement via genome sequencing. As a result, many companies have rushed in at various levels to offer genetic testing as a fee-based service delivered directly to consumers. But, Emily and Tara argue, that the ease of availability and performance does not represent an unmixed blessing, because of:
[…] unanswered questions both for […] family and for society in general. How useful will some, any, or all of this personal genetics information be to you? How much do you want others to know about it? Who has the right to make these decisions for themselves or a child?
All of these questions matter for parents considering a dive into the details of the family gene pool. After all, your genes aren’t yours alone. You got them from your parents, and your biological children will get some of yours from you. The phrase “personal genetics” implies risk for the individual alone, but in reality, the revelations —and repercussions— can span generations.
And no one quite knows what the repercussions might be […]
The authors proceed to describe — elegantly, simply, brilliantly; as expected from these seasoned science communicators — the technological intricacies of the genetic testing process, as well as the scientific concerns with interpretation, touching upon the always-contentious, but not always-clear, question of ethicality in these procedures, especially when the outcome of these tests may leave a lasting impact upon the lives of the testee, their predecessors and progeny, in short everyone linked by the common genetic continuum. Taking the example of a “Family finder” service that is often offered by some of the testing companies, Emily and Tara recount the sad story of the individual who obtained spit kits (which allow extraction of DNA from a person’s saliva) and gave them to his parents –
[…] only to find a secret in the family genetics closet in the form of a half-brother he didn’t know he had — and that his mother didn’t know he had, either. The news led his parents to divorce and splintered the family. […] As the man with the unknown half-brother noted, opting into the “family finder” on these consumer sites means participating in what “are essentially really advanced paternity tests.”
It’s just one of the many unforeseen repercussions of mining our genomes, which after all, contain information about not just ourselves but also the people who came before us and those who come after.
The opinion that I’m going to share in this space is, of course, a very personal opinion representative of my thinking and mine alone, which may not be popular or well-received by the authors, Emily and Tara, or other readers. Nevertheless, with this important caveat, I submit that the ONLY real concern about genetic testing and risk discovery lies in the misuse and abuse of the obtained data by the Health Insurance industry in order to fabricate categories of predetermined risks and deny coverage to individual patients based on that. As I see it, this is a highly US-based phenomenon, and the unholy collusion of the US Health Insurance industry in keeping the price of medical services and devices ridiculously high in the nation has been the subject of much discussions and opinion pieces – so I need not get into all that.
If the question centers around who would control the genetic data (which has been the subject of many debates amongst scientists, bioethicists, opinion providers, policy makers, and the lay public), I suggest the genetic data be treated as no different than any other kind of privileged health information of an individual, and be placed under similar (perhaps more rigorous) mechanisms of scrutiny and control under the law.
But consider for a moment a society free from those worries, perhaps benefiting from a single-payer system and whatnot, far away from a solely US-centric viewpoint. In such a utopia, genetic testing and “family-finder” kind of services can be the vanguard for so many positive changes. I envisage a time and place where the discovery of genetic risk for a particular disorder would lead to the understanding and acceptance that:
- This is a genetic, therefore heritable, trait that is passed through generations, and fear or anxiety about the trait will do nothing to reduce its effect for an individual.
- Genetic makeup of human beings is complicated, with built-in redundancies, which ensures 95-96 individuals out of a hundred carrying the genetic risk won’t be affected by the disorder (as in the example of Type 2 diabetes mentioned in Emily and Tara’s essay).
- Since genetic makeup —and therefore, the risk— cannot be changed, the best-course medical intervention is oftentimes geared towards risk mitigation and harm reduction, for instance, via early interventions through changes in physical- and diet-behaviors (continuing with the Type 2 diabetes example). These are useful strategies even without the knowledge of the risk, but data-driven intervention is the more focused, efficient, and result-oriented way.
I envisage a situational state where data gathered from the genetic testing of millions and millions of individuals would open up humanity’s knowledge about the mammalian physiology in health and disease. The research group I belong to once found that individuals who carried a genetic quirk/variant (called polymorphisms, SNPs or ‘snips’ as mentioned in the essay under discussion) which changed two particular amino acids to two other amino acids in the sequence of an important immune-mediator protein appeared to be slightly less able to defend themselves against a fungal bug ubiquitous in the environment. Although similar SNPs have been found to be associated with other microbial infections as well, this discovery study was in a select and small population, so we don’t know how far this observation on SNPs is generalizable to other people —because of lack of data. Genetic testing —which can address this lacuna— won’t change the risk, but would provide useful genetic data which, in turn, would help raise the index of suspicion for this disease, should such a patient present with certain respiratory symptoms.
I envisage a time when the rigorous analysis of genetic data from millions would finally dispel the myths of race, caste, and other artificially divisive barriers we human beings have created amongst ourselves, and celebrate our common ancestry. It would help us reconnect with fellow members of our own species, on an equal footing, free from various preconceived notions of superiority and inferiority — and hopefully help right the wrongs perpetrated due to the inordinate importance placed on such divisive notions.
I must admit, I was unusually moved by this series of 8 videos on DNA testing. Judge me if you must.
As for the anecdote of the man who found his half-brother via genetic testing, I don’t know this particular family. Instead, allow me to submit a generalization: it is eminently possible that a family which ‘splinters’ so easily based on ONE appearance of a hitherto-unknown, distant family member must have already had its own share of deeper and more widespread issues; the half-brother likely merely provided a convenient pretext. Suffice it to say, families come together and fall apart for a multitude of reasons; picking out genetic testing alone to assign culpability for the consequences hardly seems warranted.
As I have said, this is my admittedly naive and simplistic opinion; others’ mileages may, and in all likelihood, will vary. Thank you for reading. Please let me know if you feel I haven’t thought this through.