Promise and pitfalls of genomic data

By Jeff Rowe
11:34 AM

Some big time companies – and the federal government – are after your genes.

Apple, Google, Microsoft, Amazon and the U.S. government under the auspices of the recently announced “precision medicine” initiative; one way or another they’re all getting in on the genetic data market in what science and technology writer Karthika Muthukumaraswamy describes as essentially the new alliance taking shape between the IT industry and genetic research.

As she sums up the positive possibilities, “One centralized database where researchers and physicians can query millions of genomes at once could be instrumental for personalized medicine, medical models that customize diagnosis and treatment for individual patients based on their unique genetic makeup.”

There’s a distinct consumer angle to this rapidly emerging landscape, too, as, among things, smartphone apps are enabling patients and non-patients alike to share their data for treatments and studies.

But needless to say, the developments are not without their potential downside.

Like Ms. Muthukumaraswamy, Carwyn Hooper, a senior lecturer in medical ethics and law at St. George’s, University of London, is quick to recognize the possibilities of genetic research, but in his eyes there are three potential, and potentially big, problems.

Problem #1: Incidental findings - “The widespread use of whole genome sequencing will lead to a substantial increase in the prevalence of incidental genetic findings,” he says, “unexpected results that are unrelated to the reason for a test, but which may be clinically relevant. . . . The ethical debate around incidental genetic findings has focused on whether the people who are being tested have a right to be informed about any relevant genetic findings that are made.”

Problem #2: Confidentiality, or genetic privacy - Given the fact that genetic propensities don’t necessarily impact just one person, people who haven’t been tested may be impacted by the findings of people who have.  The challenge is finding the right balance between the right to privacy and the right to know.

Problem #3: Responsibility - Traditionally, Hooper says, “genetic diseases have been regarded as quintessential examples of diseases for which the sufferer is neither causally nor morally responsible.” That calculation can change, however, as genomic sequencing yields information that could lead to individuals adjusting behaviors before an actual disease occurs.

As vexing as challenges like the above might be, they pale, both in substance and in “shock potential”, compared to the possibilities of genetic manipulation.  In her article, Karthika Muthukumaraswamy describes the myriad steps that researchers have taken toward perfecting so-called “gene editing.”  Cutting out “bad” genes and splicing in “good” can be applied in a number of ways, but she notes that “as with any new technology, concerns about unwanted and dangerous side effects are immense.”

Given the number of healthcare organizations that are still in the early or mid-days of transitioning to health IT, it might seem a bit premature to be holding up both the potential and the potential pitfalls of genomic data for the majority of healthcare stakeholders.  But perhaps the “futuristic” nature of the issue actually captures the dilemma that is already very much upon us.

As Muthukumaraswamy ends her report, “Giving consumers this level of access in healthcare terms can only be good, but can it go too far?”

Now, where have you heard that before?