A previous blog post of “The Semantics of Therapy” posed three questions about the human genome being a “patient” to be treated. One reader found the post “provocative and disturbing” and called for further explanation and discussion of the questions posed. That will take some time and several postings.
The first of the questions to be considered is this: If the “patient” is a genome, to whom does the researcher answer? An answer from recent history may shed some light on this important issue.
33 infertile couples underwent a novel procedure at New Jersey’s Saint Barnabas Medical Center during the years 1996-2001. Embryologist Jacques Cohen used cytoplasmic transfer–ooplasm from the oocytes of fertile women was transferred into the eggs of infertile women–in the hope of establishing pregnancies in the latter. The outcome was 13 pregnancies and 17 babies from the Saint Barnabas experience (see accounts here and here).
According to a 2014 BBC article, one resulting pregnancy, which ended in miscarriage, revealed a missing X chromosome in the fetus. The same anomaly was noted in another child: one of a set of twins from a different pregnancy. Later, one child showed evidence of developmental delay. In 2014, Cohen estimated that the worldwide experience of cytoplasmic transfer between oocytes had resulted in the births of 30-50 babies, although the FDA had effectively stopped the procedure in the U.S. in 2002.
What had the follow-up on the babies born through cytoplasmic transfer been in 2014?
Due to a lack of funding, Cohen says, it hasn’t been possible to find out about how any of the children like Alana who were born from cytoplasmic transfer are doing. But the St Barnabus Institute is now starting a follow up study to check their progress (BBC).
In October 2016, Chen, et al, published “A limited survey-based uncontrolled follow-up study of children born after ooplasmic transplantation in a single centre,” in Reproductive BioMedicine Online. Twelve of thirteen couples responded; parents of quadruplets did not: “One couple disclosed the use of egg donor to their child. One reported intention to disclose; six were undecided and four reported they would not disclose.” (Article here.)
This admittedly biased study and a few newspaper-based profiles appear to constitute the follow-up of significant genetic intervention in babies-turned-human-subjects. So what will the future hold?
The recent committee report on human genome editing had this to say about heritable genome editing:
As with any new procedure, carefully monitored clinical trial protocols would be required for germline genome editing, with attention to monitoring off-target events as well as the efficiency and correctness of the specific edit. Unlike conventional clinical trials, germline genome editing trials would likely require long-term prospective follow-up studies across subsequent generations. This follow-up would entail study of the future children affected by the intervention, none of whom would have been party to the initial decision to participate in a research trial. . . . Even those who have volunteered to be research subjects cannot be compelled to participate in long-term follow-up. Nonetheless, encouragement is permitted. . . . (download available here)
Should we be comforted by the “long-term prospective follow-up” and the permitted “encouragement” that may be necessary? Presumably the long-term prospective follow-up will be dependent upon the monies allocated for same (when the money runs out, so does the interest?). When the State is involved, what kind of “encouragement” might be involved?
On the other hand, what about any anomalies that may be caused by these procedures? Will pregnant women be “encouraged” to abort such offspring? If born, will the resulting children be treated, or only followed like any other long-term science experiment? Who explains to these, and indeed, all of the children born through germline genome editing, that they are indeed long-term experiments?
— D. Joy Riley, M.D., M.A., is executive director of The Tennessee Center for Bioethics & Culture.