Who has the right to decide how couples at risk for Huntington's should have children? Or more specific to the debate now occurring in Europe: What rights do couples have when requesting reproductive procedures (PGD) for the purpose of having a gene negative child? What are the issues in this debate -- and who has the right to decide?
What is PGD? Medications are given to the woman that will stimulate the development of multiple eggs. When mature, the eggs are retrieved with a needle and are then incubated with the male partner's sperm. On day 3 of embryo development, a small number of cells are tested for the Huntington gene (this is the PGD part) then a few days later the non-HD embryos are placed in the woman's uterus by a very common, low-risk procedure (IVF) frequently performed in fertility clinics. For a more complete discussion of these procedures see Dr. Carne's review for HDDW (linked below).
PGD has been offered to Huntington couples --and to couples at risk for other genetic diseases -- so that they can decrease the risk of passing a disease gene to their child. Up to this point PGD for Huntington’s has been an option for couples with one partner who is known to be gene positive, and for couples with one partner at risk who chooses not to know – or to learn -- personal gene status prior to or during PGD procedures.
What is the debate? The controversy concerns only those at risk couples who choose not to know their own gene status (PGD with non-disclosure). PGD in this situation can result in 3 different possibilities:
- If the at risk parent is gene positive and a gene negative embryo has been identified, it can be selected for the IVF procedure. The gene status of the parent is not disclosed and remains unknown to the parent.
- If the at risk parent is gene positive and a gene negative embryo can’t be identified (when only gene positive embryos are available) it becomes more problematic. Though this is not a common situation, doctors may: (1) repeat the procedure for obtaining embryos, in which case the gene status of the parent is more likely to become known, or (2) perform a “sham” IVF procedure that delivers no embryo. In this situation gene status is not disclosed, but the woman partner undergoes an unnecessary procedure -- one which has potential to harm.
- If the at risk parent is gene negative, there would be no need for PGD, and as in the former case, the woman partner undergoes an unnecessary IVF procedure which has potential to harm.
There are those who argue, as did members of the committee of the International Huntington's Association (IHA), and groups of medical and legal professionals in the UK and the Netherlands -- that it is not ethical for doctors to perform sham or unnecessary PGD-IVF procedures for couples whose choice is not to know gene status. In fact the government in the Netherlands now requires gene testing in order to qualify for embryo selection by PGD for Huntington's.
What is the counter argument? On the other side, there are those who argue that couples at risk for HD have the right not to know genetic status, and that it is not ethical to restrict their options for PGD. The authors in a recent article in The Journal of Medical Ethics review exactly this question [Asscher E 2010]. The major points:
- They cite the "Universal Declaration on the Human Genome and Human Rights", a legal document agreed to by the United Nations which states that it is: "The right of every individual to decide whether or not to be informed of the results of genetic examinations and the resulting consequences should be respected.
- They also discuss the potential risk of harm and the psychological burden that may be caused by genetic testing in HD in the particular situation where the couple would choose not to know. They cite the increased short-term (within one year) psychological risk of catastrophic life events, including suicide, when compared to those who test negative or the general population [Almqvist EW 1999]. In those who are forced to test, the risks may be greater. Though is has not been studied, the authors suggest "that undesired knowledge may influence life plans substantially; it may induce depression or close off life plans that would otherwise have been considered, or frustrate fruitful life plans already in place".
Therefore they argue that there may be substantial risk for harm in forcing couples to test for HD prior to PGD.
Conclusions: There are two separate but related issues in this PGD debate. The first deals with balancing the risks for harm in this situation: the risks related to unnecessary medical procedures against the risks of forcing gene testing. This sort of balancing of risk and benefit is what happens (or should) in every medical encounter calling for informed consent --whether it is a newly prescribed medicine or a surgical procedure. The second deals with whose right it is to decide: Does it belong to the couple, the government, or a Huntington's organization?
Editors comments: Huntington families know --better than anyone else -- that there are no easy life decisions for those at risk. Do we dare encourage serious relationships, or work toward careers that may be disrupted by HD? What about marriage? And probably the most difficult, what about children? Like every thing else in HD, PGD is a hard decision that does not have a clear right or wrong answer. But I will argue along with the United Nations that the right of decision -- to test or not -- belongs to the couples involved.
It is also legitimate for individual doctors who object to PGD for gene untested couples to refuse to perform the procedure. But in this setting PGD centers have responsibility to identify other doctors who are willing. This type of compromise is nothing new; it already occurs with other difficult medical situations like abortion and death with dignity initiatives; doctors have the right to participate or not.
And finally, it is my opinion that the International Huntington's Association needs to reconsider their proposed (I believe paternalistic) guideline that recommends against PGD for Huntington couples that choose not to gene test. And I would go further and say they may have it backwards: they should be advocating for the rights of Huntington's families -- not proposing they be taken away. And yet further on my wish list: They could be positive international force advocating for insurance coverage for the many Huntington couples who would choose this procedure as an option for having children -- but can't afford it.
Asscher E, Koops BJ. The right not to know and preimplantation genetic diagnosis for Huntington's disease. J Med Ethics. 2010 Jan;36(1):30-3. doi: 10.1136/jme.2009.031047. PubMed abstract
Almqvist EW, Bloch M, Brinkman R, Craufurd D, Hayden MR. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet. 1999 May;64(5):1293-304. PubMed abstract