Contributions to Scholarship

Ethical and Social Implications of Clinical Interventions in Children With Disabilities

Appreciating how the role of language used by clinicians expresses the value of children and how that language impacts the experiences of families.

An enduring question in pediatrics bioethics regards the appropriateness of medical interventions in children with disabilities, beginning in the 1970s in the context of trisomy 21 and prematurity. Dr. Wilfond has considered the implications of interventions, including resuscitation, tracheostomy and neuroimaging. His most meaningful contribution has been to articulate the implications of the language used by clinicians that expresses value and the impact of that language on the experiences of families who are considering interventions. Wilfond’s scholarship on “growth attenuation” led to a compromise approach to an issue that divided a community with shared goals of improving the experience of children with disabilities and their families. Wilfond collaborated on pivotal papers that have contributed to the shift toward more inclusive attitudes regarding children with trisomy 18 and other “lethal” conditions, and on concept of relational potential as an alternative consideration to “interests” to understand and justify parental decisions to intervene. In 2024, Wilfond became the director of the Trisomy Collaborative, a national initiative to facilitate heath professionals’ capacity to support parents’ experience with their children with Trisomy 13 and 18.

Lippman A, Wilfond BS. Twice-told tales: stories about genetic disorders. Am J Hum Gen 1992; 51:36-37
Wilfond BS, Miller PS, Korfiatis C, Diekema DS, Dudzinski D, Goering G, and the Seattle Growth Attenuation and Ethics Working Group. Navigating growth attenuation in children with profound disabilities: children’s interests, family decision-making, and community concerns. Hastings Center Report 2010; 40:1-14.
Wilfond BS. Tracheostomies and assisted ventilation in children with profound disabilities: navigating family and professional values. Pediatrics 2014 Feb; 133 Suppl 1:S44-9
Wightman A, Kett J, Campelia G, Wilfond BS. The relational potential standard: Rethinking the ethical justification for life-sustaining treatment for children with profound cognitive disabilities. Hastings Cent Report 2019;49(3):18-25

Ethical and Social Implications of Genetic Screening and Testing

Appreciating how empirical data on family experience can guide implementation decisions.

The policy challenges related to the translation of emerging genetic technologies into clinical and public health practice have evolved over the decades. Dr. Wilfond has collaborated on seminal papers related to carrier testing, newborn screening, and direct-to-consumer genetic testing, which all took a pragmatic approach that relied on considering empirical evidence of benefit and harm to support cautiously expanding applications. He has led the American Society of Human Genetics committee in the 1990s that developed recommendations about testing children for adult-onset diseases. Wilfond participated in the 2001 American Academy of Pediatrics statement, as well as the 2015 ASHG statement, which relied on accumulating evidence to support more parental discretion. Between 2013-2023, In collaboration with Katrina Goddard, Wilfond was an MPI of two serial NHGRI Clinical Sequencing (CSER) projects (UO1 HG007292) that assessed the impact of genomic screening in healthy populations within integrated health systems.

Wilfond BS and Fost N. The CF gene: Medical and social implications of heterozygote detection. JAMA 1990; 263:2777-2783.
American Society of Human Genetics and Medical College of Medical Genetics Board of Directors. Points to consider: Ethical, legal and social implications of genetic testing with children. (Corresponding author) Am J Hum Gen 1995; 57:1233-1241.
Wilfond BS, Kauffman TL, Jarvik GP, Reiss JA, Richards CS, McMullen C, Gilmore M, Himes P, Kraft SA, Porter KM, Schneider JL, Punj S, Leo MC, Dickerson JF, Lynch FL, Clarke E, Rope AF, Lutz K, Goddard KAB. Lessons learned from a study of genomics-based carrier screening for reproductive decision making. Health Aff (Millwood). 2018; 37(5):809-816.
Gilmore MJ, Knerr S, Kraft SA, Bulkley JE, Biesecker BB, Feigelson HS, Hunter JE, Jenkins CL, Kauffman TL, Lee SS, Liles EG, Mittendorf KF, Muessig KR, Porter KM, Rolf BA, Rope AF, Zepp JM, Anderson KP, Devine B, Joseph G, Leo MC, Goddard K, Wilfond BS. Improving care for marginalized populations at risk for hereditary cancer syndromes: Innovations that expanded reach in the CHARM study. Public Health Genomics. 2024; 27:16–22.

Ethical and Social Implications of Genetics Research in Children

Respecting the perspectives and experiences of children and families

Genetic research, ranging from specimen collection and analysis to projects that use genetic tests to guide interventions, have raised important challenges to the regulatory framework for pediatric research first developed in the 1980s. As a fellow, Dr. Wilfond was involved in the Wisconsin Cystic Fibrosis Newborn Screening Trial, examining the ethical implications of incorporating DNA technology into newborn screening. This led to a focus on informed consent, which Wilfond has examined in the context of newborn screening research, pediatric assent for genetics research, and biobanks. His approach has a common theme of looking beyond traditional regulatory definitions of consent and considering how best to respect the involvement of parents and children. In addition, he collaboratively developed a conceptual framework for the disclosure of genetics research results to participants that distinguishes between informational and relational considerations that shaped the debate about disclosure. More recently, Wilfond has addressed issues related to genetic research results disclosure in the context of chronic kidney disease in children.

Taylor H and Wilfond B. Ethical Issues in newborn screening research: Lessons from the Wisconsin cystic fibrosis trial. J Pediatr 2004; 145:292-296.
Ravitsky V, Wilfond BS. Disclosing individual genetic results to research participants. Am J Bioeth 2006; 6(6):8-17.
Goldenberg AJ, Hull SC, Botkin JR, Wilfond BS. Pediatric biobanks: Approaching informed consent for continuing research after children grow up. J Pediatr 2009; 155(4):578-583.
Wong CS, Kogon AJ, Warady BA, Furth SL, Lantos JD, Wilfond BS. Ethical and policy considerations for genomic testing in pediatric research: The path toward disclosing individual research results. Am J Kidney Dis 2019; 73(6):837-845, PMID: 30879919.

Clinical Research Ethics

Appreciating the limitations of regulatory consent for effectively communicating about risk and benefits

Risk-benefit assessment and informed consent are two critical ethical safeguards, yet determining how these concepts should guide the oversight of clinical research and communication with participants and families has been a persistent challenge. Dr. Wilfond has worked with colleagues to consider these issues in the context of pediatric research and in “high risk” novel interventions such as gene transfer research. This has led to an appreciation of the limitations of regulatory consent for effectively communicating about risk and benefits with research participants and families. Wilfond has co-led a team to consider the ethical implications of research on medical practices, motivated by the development of regulations about informed consent for comparative effectiveness research and pragmatic clinical trials. This encompassed both conceptual and empirical research, including the use of innovative videos to engage the public.

Research Ethics Consultation

Championing an emerging bioethics service

While bioethics consultation has become a routine in clinical medicine, it is a more recent approach in the research context. Dr. Wilfond’s experiences at the NIH and the University of Washington providing research ethics consultations have led him to explore the value and impact of this approach. Wilfond founded the Clinical Research Ethics Consultation Collaborative, a national network of research ethics consultants for more than a decade to improve consultation practice. Clinical research consultation can supplement IRB review for novel issues; for challenging issues related to risk/benefit assessment, informed consent, etc.; for issues that arise before or after the regulatory review process, or to collaboratively assist in overcoming study hurdles or mediating conflicts. Since 2013, he has been an editor of a series in American Journal of Bioethics that annually publishes four cases, each accompanied by 3 commentaries. In 2024, they published a collection of 31 of these cases.

Beskow LM, Grady C, Iltis AS Sadler JZ, and Wilfond BS. Points to consider: The relationship between research ethics consultation and institutional review boards. IRB: Ethics & Human Research 2009; 31(6) 1-9
Sharp RR, Taylor HA, Brinich MA, Boyle MM, Cho M, Coors M, Danis M, Havard M, Magnus D, Wilfond B. Research ethics consultation: Ethical and professional practice challenges and recommendations. Acad Med 2015; 90(5):615-620.
Porter KM, Danis M, Taylor HA, Cho MK, Wilfond BS, for the Clinical Research Ethics Consultation Collaborative Repository Group. The emergence of clinical research ethics consultation: Insights from a national collaborative. Am J Bioeth 2018; 18(1):39-45.
Wilfond BS, Duenas DM, Johnson LM, and Taylor HA. (Editors) Challenging Cases in Clinical Research Ethics. Taylor and Francis Group. 2024