Nonresident Fellow in Child Health Policy
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By Amy L. McGuire, Quianta Moore, Mary Majumder, Magdalena Walkiewicz, Christine M. Eng, John W. Belmont, Salma Nassef, Sandra Darilek, Katie Rutherford, Stacey Pereira, Steven E. Scherer, V. Reid Sutton, Dwayne Wolf, Richard A. Gibbs, Roger Kahn, Luis A. Sanchez and the Molecular Autopsy Consortium of Houston (MATCH)
In an effort to identify the cause of sudden death, especially in the young (SDY), the National Association of Medical Examiners (NAME) recommends retaining samples for genetic testing in all cases where an autopsy is performed (Middleton et al. 2013). On September 30, 2014, the Centers for Disease Control and Prevention, in collaboration with the National Institutes of Health, launched an ambitious effort aimed at addressing the devastating impact of SDY by providing funding for 10 states to expand the existing Sudden Unexpected Infant Death Case Registry into a comprehensive SDY Registry and to enhance the value of that resource for public health and research purposes, chiefly through introduction of a standardized autopsy protocol and collection of bio-specimens for DNA analysis (http://www.nhlbi.nih.gov/news/press-releases/2014/nih-and-cdc-announce-grantees-sudden-death- young-registry).
This collection of blood and tissue for DNA analysis, or the “molecular autopsy,” is an increasingly pervasive tool in investigating SDY cases, the majority of which fall within the category of sudden cardiac death (SCD) (Semsarian and Hamilton 2012; Farrugia et al. 2015; Wang et al. 2015). There are, however, several unresolved ethical and policy issues that must be addressed for the responsible conduct of molecular autopsies as part of a death investigation by medical examiner or coroner offices (ME/C). For ex- ample, under most state laws, the ME/C has a statutory obligation to investigate unexpected deaths and authority to proceed without informing the family about the scope of the investigation. In addition, autopsy reports may be subject to public disclosure requirements that take little or no account of implications for family members, while the protocols for disclosing the genetic results to potentially affected family members remain conflicted (Elger et al. 2010; Boers et al. 2015) As molecular autopsies become more widely integrated into public death investigations, guidance for how best to manage these issues is needed.
There are many nuanced jurisdictional differences in the law and how molecular autopsies are performed. We have published a more detailed analysis of state laws and the implications of differences elsewhere (Moore et al. 2016). In this paper, we describe the experiences and reflections of the Molecular Autopsy Consortium of Houston (MATCH), a collaboration between the Harris County Institute of Forensic Sciences (an integrated operation including Medical Examiner services and Crime Laboratory services) and Baylor College of Medicine, which conducted genetic analysis on a large cohort of 351 deceased infants, children, and young adults (age range 0–37) in an effort to determine the cause and manner of death (Methner et al. 2016).
Although there are jurisdictional differences in how molecular autopsies are performed, we propose general recommendations to address the ethical and policy challenges raised (Box 1), based on our experience as a multidisciplinary consortium with expertise in pathology, medical genetics, genome science, genetic counseling, bioethics, and law (with consultation from experts in cardiology). The focus of this paper is on SDY because these cases are most likely to fall within the jurisdiction of the ME/C and because the absence of any physiologic finding on standard autopsy is more common in children, necessitating a molecular autopsy to determine the manner and cause of death. Nonetheless, the issues are similar for adults, and our own approach did not differ between the children and young adults in our cohort. We also limit the scope of this paper to molecular autopsies performed during a death investigation by a ME/C, while acknowledging that molecular autopsies may occur in different circumstances, such as in the context of private autopsies requested by family members.
Published in Genome Research.
