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Ethical Considerations


Furrer et al, American Journal of Bioethics (2023) considers potential psychological implications of the fact that polygenic risk scores, if provided to parents before a child is born, would provide the very first units of information upon which parents will begin to form an impression of their child. Drawing from research in social psychology, we formulate three sequential hypotheses: 1) parents may assign undue weight to genetic information (primacy effect); 2) parents may form “genetic expectancies," and could be less amenable to updating those expectancies based on subsequent environmental information compared to those informed post-birth (anchoring and adjustment heuristic); 3) parents may search to confirm or disconfirm their genetic expectancies and in doing so, they will be exposing their child to environments conducive to the actualization of their genetic expectancies (which we term "nurtured genetics").

Lencz et al, Lancet Psychiatry (2022) presents a detailed elaboration of the special concerns attendant to PES in the context of psychiatric disorders. Regarding stigma, it is both possible that fear of psychiatric illness may cause individuals to over-estimate the risks of these disorders, while at the same time, the availability of PES may lead to increased stigmatization of those with illnesses that can be selected against. This vicious cycle may hinder future psychiatric genetics research, if participants feel their data might lead to greater stigmatization of their conditions. In addition to these social issues, we review the statistical confounds that may especially impact the accuracy of behavioral polygenic risk scores, including effects of socioeconomic status, misspecification of the phenotypes of interest, and the role of “genetic nurture,” the fact that the genes of parents also shape the environment in which the offspring grow up.

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In Barlevy et al, American Journal of Bioethics (2022), we extended our analysis of preimplantation screening using polygenic risk scores to the context of prenatal screening. For example, we discuss the limits of statistical accuracy of polygenic risk scores, the challenges of communicating probabilities to patients, and the variable presentations (in terms of severity and chronicity) of complex polygenic disease as compared to monogenic disease. We also discuss ethical concerns, such as the problem of conflicting autonomies (i.e., those of the parent(s) vs. those of the future child), the potential for adverse effects on the parent-child relationship (e.g., treating a child as a “patient-in-waiting”), and the risk of discrimination (e.g., with respect to insurance coverage).

In Lázaro-Muñoz et al, Genetics in Medicine (2021) we outlined several key ethical considerations surrounding polygenic embryo screening (PES), emphasizing its differences from conventional preimplantation genetic testing for monogenic disease (PGT-M). For example, PES may involve balancing of risks across multiple diseases, potentially leading to a sense of “choice overload” which could actually diminish procreative autonomy. Communication of the probabilistic nature of PES also raises novel challenges for clinicians, and the difference between relative and absolute risk reduction may be especially difficult for patients to evaluate. We also suggest that psychiatric conditions and cognitive traits may present special ethical issues, due to: 1) the stigma around psychiatric disorders; and 2) the history of eugenics, which manifested its greatest injustices in the context of intellectual and psychiatric disorders.

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