What’s to be done with genetic information? Would you prefer to know the bad news? Or would you rather just roast on the spit of indecision, hoping for the best?
There is no gene test for schizophrenia yet, but it’s on the horizon, coming to a genome lab near you, eventually.
When it does, we’ll all be genetic pioneers. Or genetic guinea pigs if we’re not careful.
This weekend four writers facing four different genetic disorders were interviewed on the BBC Health Check Series, each unpacking a family history that’s a reminder of the cruelties of biology.
(Full disclosure moment: The four are my fellow essayists in The Story Within: Genetics and Personal Identity.)
Think about it: a tiny spelling error in any one of the roughly 20,000 genes that comprise the human genome can disable a person for life.
Of some 7,000 disorders that plague man, about a quarter of them have genes that have been implicated.
In about 600 of these, genes can be diagnostically tested.
Joining the BBC host to help guide the discussion led by Claudia Hammond, Sir John Burn, a professor of Clinical Genetics at Newcastle University and a world authority on genetics, noted that, in the opinion of many, it’s only a matter of time before all genes are known for all disorders.
Schizophrenia may be one of the last genetic locks to be picked. This is because there’s not one single gene for the disorder but dozens, none necessary nor sufficient alone to cause it. Non-Mendelian, in other words.
Still, every few months sees exciting new discoveries. Just last week, a link was found between a largely unstudied gene for schizophrenia, ULK4, and bipolar disorder, depression and autism.
While the University of Aberdeen-led research–published in the Journal of Cell Science–set out to look for genes that might be important for schizophrenia, this particular gene had been associated only with hypertension, never with mental disorder.
“What’s going to happen increasingly is that people are going to have their whole genome sequence for one reason, and then be found to carry a spelling mistake in an important gene elsewhere,” Burns observed.
He predicted that drug makers will be interested in families afflicted multiply with specific genetic illnesses.
If an anti-psychotic works for a family as hard hit as our own here in Boston, say, then it’s a better bet to work for many more families with schizophrenia.
Still, decisions to have your genome sequenced may never be black and white. Much hinges on whether there’s anything useful to be gained from the information.
“We don’t twist people’s arms,” says Burns. “We simply give the opportunity.”
Amy Boesky, a Boston College literature professor who edited The Story Within, told the BBC she’d elected to have her breasts and ovaries removed without testing for the braca gene that took her mother.
While the essayists in the collection have a range of disorders that thrust themselves into our families, that seems only fitting: what unites us is the need to encourage greater respect and tolerance for genetic variation.
“A number of us said when we met this fall that we felt like we were part of a larger family,”Boesky notes.
“Many of us feel that we are working against generations and layers of guilt and shame and stigma associated with hereditary conditions.
“And I think that’s been a reason for not only being willing but wanting to speak out and write about this, no matter how hard it is.”
Hammond sums up the misfortune. “You want to be the lucky one, but you don’t want the others in your family to be the unlucky ones either.”
Clare Dunford’s son JP has Fragile X, a disorder that comes out of the blue to consume one’s life.
JP was diagnosed at age 7. “It erupted and transformed my family and in some ways makes us feel our families have come to a dead end,” Dunsford tells the BBC.
Tufts University creative writing professor Michael Downing was tested for the genetic mutation for his family’s hypertrophic cardiomyopathy, which causes sudden heart attack, and killed his father at 44. After his brother died in 2003, the family was tested.
Asked how he copes, Downing frankly says he doesn’t. “You don’t cope with it, actually. You just receive it and try to take it in.”
Kate Preskensis speaks about the early onset Alzheimer’s that has claimed her mother among five family members.
“I live under my own magnifying glass—a constant examination of my memory, choice of words, and emotional state,” she writes. “All aspects of my life are stifled by the knowledge that Alzheimer’s disease in our family is linked to a specific traceable gene.”
Like me, Preskensis has held off on having kids. However tragic the past, genetics stalk our future too. Until there’s a cure, mischances shadow the unborn too.