My Personal Genome Project ID is hu4DE348.
I’m part of a Harvard-initiated study which aims to sequence and publicize the complete genomes and medical records of 100,000 volunteers.
That’s the goal, anyway. They’re up to only 3,500 volunteers since beginning in 2005, probably due to budget constraints. I signed up early on, thinking because of my aunt’s early death from colon cancer and my mother’s narrow escape from that fate, my genes might reveal useful information for researchers in that field.
Plus, being a volunteer white mouse sounded cool. Back in 2005, the cost of having a complete genome sequenced was in the realm of tens of thousands of dollars. I knew I could never afford that, much like most other Americans.
A science geek with math blindness, I saw this as my chance to do research by proxy. Since results are made publicly available, volunteers had to pass an online exam on genetics to prove we were aware of the risks and scope of the study.
I passed it, then mailed my sputum sample in, which was sequenced by the team and uploaded to a publicly available page. It’s not the complete genome, and since I couldn’t go to any of the study’s blood collection events on the West and East coasts, I was disappointed to learn in recent years that blood sample volunteers are the only ones whose complete genomes will ever be sequenced.
So, I’m not quite on the cutting edge of research as I’d hoped, but on occasion reports are posted with a potent familial angle. A pathogenic allele-let’s call it bad gene-for prostate cancer (one brother contracted this decades too early for the usual patient), and yes, a bad gene for colon cancer.
But a bad gene isn’t always a powerful indicator, and it works in conjunction with other factors along with one’s prenatal and post-birth experiences.
Reading a brilliant book called The Gene by Siddhartha Mukherjee recently has prompted me to visit PGP’s website after an absence of many months. A new medical report had been uploaded. It repeated the old deadly news about prostates and colons, but added a new one, about a bad gene associated with squamous cell carcinoma, which my sister successfully battled during this decade.
Mukherjee remarks in the book that certain genes thought of as being problematic can be useful in some contexts (as with Attention Deficit Disorder when one is hunting or being hunted) but not so much in others (as with the same disorder, but in a classroom).
My sister’s carcinoma is obviously not useful in any situation. I can see how knowledge of one’s genome, as translated by scientists, can be a valuable part of a medical record. That I’m finding out this data too late to help my family is disappointing.
Any person, regardless of income, should have voluntary and informed access to their genetic profile. As researchers learn more about how our genes operate, and the factors that influence them, it’s tempting to sound the alarm about the dangers of too much knowledge in the wrong hands.
Government intrusion, health insurers, corporate testing to weed out job candidates, preference given to certain genetic profiles-these are real issues. But the biggest one in my view is that such genome editing techniques as CRISPR, in which scientists use bacteria to re-engineer genomes in crops and lab animals, are becoming realizable, although the ethics of such options are still not fully understood.
At some point, gene-based therapies for humans, even as early as the fetal stage, could mean the erasure of many of life’s ailments. Yet the cost of such knowledge means the haves and have-nots could face an unjust divide regarding their respective genetic profiles.
Opponents of single-payer healthcare tend to rail that medical care is expensive because some people’s lifestyle choices push up the costs for everyone else. A retail cashier and a well-paid lawyer with the same genetic profile and similar inclinations, however, have different healthcare options and interventions available.
Now think of a future in which that fortunate lawyer, thanks to early gene-based therapies, never develops high blood pressure or some other condition which we currently see as influenced by a poor choice. But the cashier does.
Then the “choice” to eat salt-laden or fatty foods can more clearly be seen as a decision made by someone whose options were never that great to begin with.
We live in an age where the tools to heal ourselves and our children are growing ever more powerful. Who gets access and at what cost? As a childless woman who volunteered to be a white mouse, and who is fortunate to have moderately good insurance, I don’t have to worry about being targeted for my genetic profile.
Others may not be that lucky. Here is something to consider by people who opposes greater public access to health care and information: they’re making that decision not only for themselves but also for their family’s future.
A grandchild or a great-nephew may end up needing gene-based treatment that could have been scaled up for greater public access at a lesser cost per patient, as the result of progressive policies. But today’s naysayers view the issue through glasses that only see morals and money, and not the promise of public science for public good.
Lawmakers and public policy researchers would do well to consider how access to biotechnology and genome engineering might figure in to public health outcomes-and they must include in their calculations the well-being of people who have yet to be born.
The future is now, in more ways than they think.