For the past few days I've been avidly following Daniel MacArthur's tweets from the Personal Genome Conference at Cold Spring Harbor(@dgmacarthur #cshlpg).
The Personal Genomics tweets aren't just interesting because of the science, they're interesting because MacArthur and others have started to take on the conventional dogma in genetic ethics.
For years, there has been a strong message from the clinical genetics and genetics education community that genetic information is dangerous.
Unlike the other medical tests we're continually urged to get (mammograms, blood pressure readings, sugar, colonoscopies) genetic tests are presented, at least in teaching materials, as risky. According to many teaching materials, you should not get a genetic test, until you've identified all the stake holders, and weighed all the pros and cons. Imagine if doctors used followed these procedures before reading someone's blood pressure or taking their temperature. The implication isn't stated, but the underlying message is clear: Genetic tests are different and more dangerous than conventional medical procedures.
Ironically, much of the negative atmosphere around genetic information seems to have originated from ELSI. ELSI was a commitment on the part of the NIH to use 1% of the money allocated to sequencing the human genome to fund studies on the ethical, legal, and social implications of the human genome project.
Instead, ELSI has produced several curricular materials that present genome sequencing as a "bad idea." The biggest consequence of ELSI has been to turn the desire for one's own genomic information into something shameful.
People who get their DNA sequences are equated with skydivers, speed racers, and winners of the Darwin awards. All the signs say "Warning!! You are engaging in risky behavior that could endanger your family, job, and insurance policy."
The top reasons for discouraging genetic testing
The usual reasons that geneticists give for discouraging people from seeking genetic testing are:
- the results are too complicated for most people to understand (most people are too stupid?)
- the risks outweigh the benefits (This could be true, but we rarely talk about the benefits, and we obsess about the risks.)
- it's expensive (According to Atul Butte, by way of Daniel MacArthur's tweets, a colonscopy costs $6000. This is now 6x more expensive then having 23andme sequence your exome, plus you would get far more information.)
It's not just the education community
Some of tweets from MacArthur were on stories from Gholson Lyon on being unable to share findings from Next Generation DNA sequencing studies with patients.
Patients in clinical studies must give their consent and acknowledge that they understand the risks of the study in order to participate. The forms that are used for consent are designed to protect patients and minimize risks.
A problem with some clinical studies is that occasionally the researchers find medical problems in the participants that weren't known before the study. These kinds of findings are becoming more common with studies that sequence the entire genome. Unfortunately, the common practice has been to avoid returning this kind of "incidental" information back to the patients. After all, they didn't give their consent to receive it.
MacAthur tweeted one story from Gholson Lyon where the researchers learned that a woman in a study, who was 4 months pregnant, was a carrier for a lethal disease. They weren't allowed to tell her this because of the IRB constraints, and the affected baby died. According to MacArthur, " ... this emphasizes the moral horror of blocking return of research findings."
Out of the mouths of babes
A teenage conference attendee spurred one of MacArthur's most intriguing tweets:
"Anne West (only healthy teenager I know with a genome sequence) asks about consent forms: shouldn't they include risks AND benefits? #cshlpg"
According to @finchtalk, West, apparently used Next Generation DNA sequencing, to determine the DNA sequence of her own genome and that of other family members as part of a high school science project.
West makes a good point.
Why don't we give equal time to talking about the benefits?
Maybe it's time to acknowledge that genetic information is just like any other kind of medical information. Deciding not to get a test, never makes a problem go away.