Disease Heritability Inferred from Familial Relationships Reported in Medical Records.

Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a validation of the use of EHRs for genetics and disease research.

An Offering of Hope During COVID-19: A Personal Reflection.

This essay offers a philosophical and spiritual exploration of some of the language that has become part of daily life amidst the COVID-19 crisis.

Normal functioning and the treatment/enhancement distinction: an opportunity based assessment.

As genome mapping technology uncovers the roots of pathologic and physiologic human functioning, important questions are brought to the fore concerning our conceptualization of ideas such as disease, treatment, and enhancement. In 1985, Norman Daniels proposed a normal-functioning model that expands John Rawls' theory of justice to obligate the provision of health care based on the constraints disease places on individual opportunity, but also limits the commitment of the medical establishment by focusing on states that represent deviations from normal human function. While some argue that the boundaries of medical institutions' commitment to provide services within a normal-functioning model are arbitrary, the degree to which these concerns truly threaten the framework is often exaggerated in special cases put forward in the literature. Furthermore, the normal-functioning model provides a comprehensive basis for agreement in discussions of medicine's commitment to the demands of social justice where resources are limited and avoids the dangerous overextension of the healthcare system and medicalization to which more expansive models are exposed.

Living donation and cosmetic surgery: a double standard in medical ethics?

The commitment of transplant physicians to protect the physical and psychological health of potential donors is fundamental to the process of living donor organ transplantation. It is appropriate that strict regulations to govern an individual's decision to donate have been developed. Some may argue that adherence to such regulations creates a doctor-patient relationship that is rooted in paternalism, which is in drastic contrast with a doctor-patient relationship that is rooted in patients' autonomy, characteristic of most other operative interventions. In this article we analyze the similarities between cosmetic plastic surgery and living donor surgery as examples of surgeries governed by different ethical principles. It is interesting that, while the prevailing ethical approach in living donor surgery is based on paternalism, the ethical principle guiding cosmetic surgery is respect for patients' autonomy. The purpose of this article is not to criticize either practice, but to suggest that, given the similarities between the two procedures, both operative interventions should be guided by the same ethical principle: a respect for patients' autonomy. We further suggest that if living organ donation valued donors' autonomy as much as cosmetic plastic surgery does, we might witness a wider acceptance of and increase in living organ donation.

Why nondocumented residents should have access to kidney transplantation: arguments for lifting the federal ban on reimbursement.

Current U.S. legislation restricts reimbursement for organ transplantation for nondocumented residents, which makes it difficult for many immigrants, including children, to access the transplants they need. In this article, we offer moral, economic, and legal reasons that nondocumented immigrants deserve the same access to kidney transplantation as do legal residents. We argue that the current reasoning for such a ban is based on unjustified fears and unsupported assumptions, which are not a solid basis for determining eligibility for lifesaving therapy for the neediest members of our society.

Human participants challenges in youth-focused research: perspectives and practices of IRB administrators.

The purpose of this research was to understand institutional review board (IRB) challenges regarding youth-focused research submissions and to present advice from administrators. Semistructured self-report questionnaires were sent via e-mail to administrators identified using published lists of universities and hospitals an Internet searches. Of 183 eligible institutions, 49 responded. One half indicated they never granted parental waivers. Among those considering waivers, decision factors included research risks, survey content, and feasibility. Smoking and substance abuse research among children was generally considered more than minimal risk. These findings are consistent with those from a study conducted by Mammel and Kaplan (1995), which investigated IRB practices concerning protocols involving adolescent participants. IRBs and investigators need to become aware of regulations' flexibility to ensure adequate participant protection. Investigators need to limit jargon and assumptions about participants' understanding of research objectives.