In a recent CBS News video segment, Eric E. Schadt, chair of the Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine, enthusiastically discussed the benefits of whole-genome sequencing. When asked about the technology’s potential down sides, he answered:
Given this view, one would imagine that Schadt’s department is deeply engaged with these discussions. In at least one way, it is. He explained that the school is addressing the social and ethical complexities of whole-genome sequencing by offering a first-of-its-kind course in which students analyze entire genomes (either their own or an anonymous sample) and then take part in a research study on the effects of getting this information.
The social implications, what sorts of policy we should be thinking about, those are the discussions we should be having right now, about how to leverage this information in ways that are benefitting humankind, not biasing the type of population through unnatural selection of traits.
Put another way, the school is hoping to determine the ethics of a new technology they’ve adopted by performing it on their students and taking stock of the damage.
The course is called “Practical Analysis of Your Personal Genome” and currently has 20 people enrolled, including MD and PhD students, genetic counseling students, and junior faculty. The students will be able to use Mount Sinai’s own equipment to sequence and analyze more than four million genetic variants, at no cost to them. Though most of these variants are not fully understood, they will be the basis of predictions about the students’ risks of developing thousands of diseases, their responses to medicine, and clues to their ancestry. The information will be relevant not just to them, but also to their family members, including any children they may have. The department is covering the expenses, which will be a few thousand dollars per genome.
But the students’ sequencing and analysis work is just one aspect of the course. Through a questionnaire-based study, the students will also be taking part in a research project that aims to assess the utility of whole-genome sequencing, the degree to which the exercise improves their knowledge of genomics, and the impact of so much sensitive information on their psychological well-being. The school hopes the results of this research will shed light on how to deal with the complexities and sensitivities of genomic data. The results will be available after the class concludes in December and, as Assistant Professor of Genetics and Genomic Sciences Randi E. Zinberg noted in Mount Sinai’s press release, the school has big plans for how it will utilize the study. “We look forward to sharing our learning from this course with other medical schools and graduate schools worldwide to help advance the breadth and depth of medical genetics education.”
Mount Sinai is not the first university to arrange for its students to submit their DNA for testing. “Genomics and Personalized Medicine,” a course at Stanford University that has been offered for four years now, asks that students have their DNA analyzed by one of two private companies for information on thousands of different conditions.
Both Stanford’s and Mount Sinai’s courses involve graduate students studying genetics who elect to take the courses and who will work through the results within the context of the classroom. These courses are thus importantly different from UC Berkeley’s 2010 program, in which all incoming undergraduates were invited to send off a cheek swab for a free-of-charge genetic analysis of three genes. That program ended up being terminated by the California State Department of Health, which pointed out that it was unauthorized clinical testing. Mount Sinai and Stanford are thankfully not involving thousands of teenagers who haven’t necessarily thought through the consequences or meaning of genetic testing.
Mount Sinai has additionally been careful to put several important safeguards in place, reflecting its increased awareness of the potential downfalls of such programs. Unlike Stanford, it does not currently have much information about the class available online. But in an email, Michael Linderman, one of the two professors teaching the course, assured me that they were taking all necessary precautions to ensure the class is ethically sound. The class was reviewed by the medical school’s curriculum committee, its dean, its IRB, and its institutional research ethics committee. Also, all the students took part in a mandatory 26-hour prerequisite course (which functioned as group genetic counseling) in which they learned about next-generation sequencing, genome analysis and interpretation, genetic counseling, communication of genetic results, the ELSI issues around sequencing, and the limitations of the knowledge they would gain. The students have the ability to exclude parts of their genome they prefer not to know about, and they also have the option for one-on-one genetic counseling with an expert from Mount Sinai Medical School or an outside institution at any time.
These all represent thoughtful and thorough safeguards. Nonetheless, some concerns remain. In an interview with GenomeWeb last week, Andrew Kasarskis, vice chair of Mount Sinai’s Department of Genetics and Genomic Sciences, was fairly candid about an additional motive for the course that will directly benefit the school:
He also stated that the course should not be considered a clinical study since none of the information discovered would go into students’ medical records unless they wanted it to.
One of the reasons we set this course up was, we did not have an incredible mass of people who could think this way and do this at Mount Sinai, and we figured it would be good to increase that. So it's good to train people for wherever their jobs take them, and we will be studying that over time, but more importantly, just in a completely selfish way, I need folks who can do this kind of work clinically here and now.
But for a student, the discovery of a genetic variant linked to early-onset Alzheimer’s or cancer would seem to be a clinical concern.
There is nothing clinical about what's being done here, this is entirely an exercise for young scientists to learn how to apply certain skills to a human genome sequence that happens to be their own and therefore potentially a bit more interesting than just a random, unknown sample.
Kasarskis went on to note that a “central hypothesis of the research study is that students who have sequenced their own genomes will report more engagement than those that did not.” Though the professors do not yet know how many students chose to sequence their own genomes (each student’s decision was kept private), I would imagine that if this central hypothesis was communicated to the students, it might have influenced some of their decisions.
The research study has been billed as an important part of the course, precisely so that the investigators can draw conclusions about the psychological impact of whole genome sequencing. But when Kasarskis was asked about what informed consent was required for the students to take part, he commented:
A questionnaire itself may indeed represent “minimal risk.” But since in this case its purpose is to probe the effects on these students of the extremely personal and potentially very upsetting information that is uncovered as a direct result of a course that the school designed and offered, I am surprised that informed consent was not deemed necessary.
Interestingly, there is very little evidence that people who have done direct-to-consumer testing, or participated in other courses that have looked at personal genomic and genetic information, have experienced psychological distress. A formal informed consent document was not required by our IRB as the questionnaire involved minimal risk, making the study exempt. For the course itself, it was not a research study, so a research informed consent document was not appropriate.
Kasarskis is well aware that genetic testing may turn out to have negative impacts on individuals (and particularly on what he acknowledges is a “vulnerable population” of students), as well as on society. He makes this clear at the end of the interview:
There is a lot of concern about genetic information. There is genetic exceptionalism, genetic determinism in general, nasty histories of eugenics and other sorts of discrimination, potentially for life insurance even now. There are the limits of knowledge of genetic information, and how it might be misapplied, and the fact that it sticks with you forever. Similarly, of course, whenever you are teaching students, there is a concern about coercion. They are considered by most IRBs to be a vulnerable population…
Given that the students in this class may well go on to develop, promote, or counsel others on the use of whole-genome sequencing, their experience in this class is important for future patients as well as for themselves. The effort to educate well-informed scientists and doctors who are sensitive to the complexities of the technologies they use is certainly commendable. I only hope that in their effort to better understand this so-called “precision medicine,” Mount Sinai Medical School will also be precise in fulfilling their responsibilities to their students.
We wanted to make sure they were very well educated about what they were getting themselves into, because even though this is obviously a self-selected group of people who thought the idea would be interesting, we thought it was important to probe that a little bit, make sure you really understand what you might learn.
Previously on Biopolitical Times:
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