The debate about how to manage individual research results and incidental findings in genetic and genomic research has focused primarily on what information, if any, to offer back to research participants. However, increasing controversy surrounds the question of whether researchers have any responsibility to offer a participant’s results (defined here to include both individual research results and incidental findings) to the participant’s relatives, including after the participant’s death. This question arises in multiple contexts, including when researchers discover a result with potentially important health implications for genetic relatives, when a participant’s relatives ask a researcher whether any research results about the participant have implications for their own health or reproductive planning, when a participant’s relative asks whether any of the participant’s results have implications for a child’s health, and when the participant is deceased and the participant’s relatives seek information about the participant’s genetic results in order to address their own health or reproductive concerns.

Biobank data and samples frequently endure beyond the life of the individual who provided the sample; this is particularly true for biorepositories that archive data and samples from cancer patients. Those data and samples may be used for research, including after the death of the individual. When the research produces genetic research results (a term used here to include incidental findings and individual research results) that have potential health or reproductive importance for the individual who provided the sample, the results may also have importance for blood relatives. This raises the question of whether the research results should be shared with relatives, at their request or at the initiative of the researchers. The issues are complex even when the research participant is alive, but are particularly challenging after the death of the individual whose data and sample are archived, as the individual may not have been asked their preferences about sharing with family, including after death. Even if the individual’s preferences on sharing have been elicited, investigators and biobank directors may be concerned about withholding genetic research results from relatives that are of potential health significance.

The incorporation of exome and genome sequencing into research and clinical practice raises the possibility of providing a range of genomic results to relatives in the event of the death of the research participant or patient. Genomic data can be of direct relevance to the medical care of relatives. However, some test subjects (e.g., cancer patients) are at higher risk of dying before they receive their test results and thus may not be able to share useful information with family members. We created an Institutional Review Board (IRB)-approved document with talking points on the possibility of disclosure of results to family members after an individual’s death to discuss during the informed consent process for genomic testing with participants in a study of exome sequencing in the context of familial colorectal cancer/polyposis.

Research on the use of genome and exome sequencing for diagnosis, identification of potential therapies, precision prescribing of pharmaceuticals, and identification of disease risk is progressing rapidly. Research projects now commonly yield findings of potential health importance for the individuals sequenced as well as their relatives, raising difficult questions about investigator responsibilities to offer those research findings for potential clinical work-up. As sequencing is moving into clinical application, the ethical questions are further multiplying. The ethical quandaries will only proliferate as use of sequencing in screening to achieve public health goals is debated more widely.

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.

The return of individual genetic results to research participants has been widely discussed in the context of an explosion of genetic research utilizing an ever more rapid and inexpensive array of sequencing and bioinformatics platforms. To date, a number of consensus statements guide researchers as to the breadth and limits of their obligations for offering genomic research results to participants. Typically these recommendations are rooted in the result’s clinical validity, actionability, and potential health consequences, and are predicated on the informed consent of the participant. An emerging discussion is the challenging question of the degree to which researchers may additionally have responsibility for offering results to family members of the research participant. Some have argued that ethical obligations to relatives intensify as the significance and actionability of the result increase, while others claim that obligations to next of kin should follow the clinical model where the decision to share genetic results falls to the patient. A detailed reflection on the many ethical issues that arise in considering whether such a responsibility exists, and if so how to honor it, is presented in this issue of JLME by Wolf et al.

Given the nature of scientific inquiry, biomedical and genomic researchers have forged innumerable ways to advance our understanding of human disease. In many cases, research requires the involvement of human subjects, and in a subset of these studies, the researcher may collect data and biospecimens from many participants, and even serially collect additional materials over time and across a number of geographically dispersed centers. The organized data and biospecimens are collectively known as research biobanks. Researchers have an obligation to disseminate findings from their research through publications and presentations to other professionals, and when possible, to the public. Sharing genomic data is increasingly being mandated; access to data can be obtained through collaborative or state-funded entities. For example, the database of Genotypes and Phenotypes (dbGAP) and the International Cancer Genome Consortium will grant approved research applicants access to de-identified individual level genomic data with accompanying demographic/clinical information.

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child’s cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.

Both researchers and clinicians are increasingly offering genomic testing for children and adolescents, a practice which parents have generally endorsed in numerous studies. By contrast, much less effort has been devoted to understanding what minors think about genetic and genomic testing. While a small number of investigators have shown that minors with or at risk for cancer generally concur with their parents and favor testing, other studies reveal that minors are less willing to participate in genomics research. Regardless, genetic and genomic testing of minors raises of host of potential legal questions. Key issues are: (1) To what extent can minors obtain genomic tests without involvement of parents or guardians? (2) To what extent can minors refuse genomic testing? and (3) To what extent can minors obtain their own results, keep their parents from getting access to them, and limit what their parents do with their genomic test results? While a number of authors have written about legal issues in genetic testing of minors, remarkably little has been written about the legal protections of minors’ choices about genomic analysis and return of results.

The successes of the Human Genome Project and the continuing advances of DNA technology have ushered in a new era of genomic science. Investigators around the world are using genomic technologies to advance our fundamental understanding of biologic and physiologic mechanisms in humans and other species. The ability to sequence the entire human genome exponentially expands our ability to identify the contribution of genetic variation to disease risk and other phenotypic differences within the population. Information derived from this research has the potential to contribute to disease prevention, disease prediction, and personalized treatment. These scientific advances, however, raise several ethical, legal, and social challenges. Many of these challenges, including personal and societal benefits and risks, and privacy and confidentiality, are mirrored in the current professional and public debate about the perceived conflict between personal autonomy, privacy, and confidentiality, and the potential value of sharing genomic information within the family.

Should children ever have genetic testing for adultonset conditions? For the last two decades, there have been general recommendations from professional organizations that discourage such testing. Until recently, such testing was only plausible in the context of a family history of a Mendelian condition that might prompt the parents (or an adolescent) to request testing for the adult-onset condition present within the family. In this context there has been a gradual shift in the direction of suggesting parents should have greater discretion to obtain such testing after careful consideration of risks and benefits by the family and the health care provider.

Whether research results should be returned to participants has been an ongoing debate in the research and bioethics communities for years. The debate has become more complicated as advances in technology permit the discovery through genomic sequencing of a growing number of findings that may or may not have clinical relevance for research participants. As part of the larger conversation regarding whether and under what circumstances research results should be returned to participants, research conducted using residual newborn screening dried blood samples (DBS) deserves special consideration due to the nature of newborn screening, the recent controversy regarding the retention and use of DBS, and the impact of this controversy on state newborn screening programs.

As genomic medicine advances and immense amounts of data are generated that may potentially affect human health, there is increasing concern around which of these results matter to participants. There has been considerable debate on which research results to return to participants and when those results should be returned. To date, however, the debates around the return of genomic results have not focused on how those results should be returned, especially when the results come from minority and/or culturally diverse participants. This commentary explores cultural and ethical considerations, and shares insight from my own Navajo background, around returning genomic research results to participants and potentially to families of culturally diverse backgrounds, with a special focus on considerations when the research participant is deceased, and raises points for further discussion.

Debate over return of results and incidental findings to participants in genetic and genomic research has exploded over the last decade. At this point, there is wide agreement that investigators have a responsibility to anticipate discovery of findings that may warrant return, to incorporate in protocols a plan for evaluating such findings, and to offer at least some of these results to participants consenting to such return. However, the issue of how to handle questions from a participant’s genetic relatives about their own risk, or whether investigators should alert relatives to a genetic risk they may share, has garnered much less attention. Only recently has the genomic research community begun to debate these questions and offer recommendations.

Answering important public health questions often requires collection of sensitive information about individuals. For example, our understanding of how HIV is transmitted and how to prevent it only came about with people's willingness to share information about their sexual and drug-using behaviors. Given the scientific need for sensitive, personal information, researchers have a corresponding ethical and legal obligation to maintain the confidentiality of data they collect and typically promise in consent forms to restrict access to it and not to publish identifying data.

The interests of others, however, can threaten researchers' promises of confidentiality when legal demands are made to access research data (e.g., through subpoena). In some cases, the subject of the litigation is tightly connected to the research questions, and litigants' interest in the data is not surprising. Researchers conducting studies on tobacco or occupational or other chemical exposures, for example, are relatively frequent targets of subpoenas.

Oocyte donation has been used to treat human infertility for nearly 30 years, and remains particularly popular in helping women of advanced reproductive age, yet it also poses ethical concerns. Due to increasing demand and undersupply of available oocyte (or egg) donors, a niche business has developed in which “agencies” assist physician practices in advertising, recruiting, screening and even “matching” donors to recipients in need of such services. The advent of the Internet has increased the number and visibility of these services, creating a market in which programs bid for women perceived as having desired traits and superior pedigrees. A few questionable ethical aspects of these agencies have been examined by ourselves and others, including patterns of monetary compensation that directly conflict with the American Society for Reproductive Medicine's (ASRM) ethical guidelines, but many questions remain unexamined.

For-profit agencies that recruit and often match egg donors with intended parents exist alongside licensed, professional fertility clinics that actually perform the medical procedures.

Wolf et al. define an incidental finding (IF) as “... a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of conducting research but is beyond the aims of the study...” Wolf et al. also propose that researchers “... should consider what kinds of IFs the protocol may produce and how rapidly the identification and evaluation process needs to proceed to provide timely information to the research participant and avoid harm.”

Recently, the U.S. Presidential Commission for the Study of Bioethical Issues considered the matter of IFs. In the Commission's December 2013 report on this topic, “Anticipate and Communicate–Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts,” the panel further defines two categories of IFs, anticipatable and un-anticipatable, as well as introduces the concept of secondary findings. The commission recommends that researchers should develop plans to manage anticipatable IFs, and should consider to actively look for secondary findings.

Preventable diseases not only cause suffering and physical harm, they also impose financial costs on private individuals and public authorities. By disregarding evidence of the safety and effectiveness of vaccines and choosing not to vaccinate their children, some parents are increasing the risk of outbreaks and their attendant costs. In a very real sense, since those families are not currently required to cover the full costs of outbreaks, they are externalizing those costs onto others – individuals affected and society at large. Since non-vaccinating can directly lead to costly outbreaks, this paper argues that it is both fair and desirable to impose those costs upon those making the choice not to vaccinate. There are, in fact, strong policy reasons to support doing so regardless of whether we use an approach based on fault or a no-fault framework. Not only can the decision not to vaccinate be seen as culpable, aside from the culpability consideration, it is appropriate to compel those deciding not to vaccinate to internalize the costs in order to prevent free riding and to mitigate harms to others.

A mother new to my general pediatrics practice says that she wants no vaccines for her infant because she says, “I have read on the internet…,” or “I heard from a nurse…,” or “So-and-so celebrity says they can cause autism, brain damage, poisoning, cancer, neurological disorders, and even death.” Perhaps she has read about “the dangers” of vaccines in the first edition of Dr. Sears’ The Vaccine Book. Or people on her Facebook page also say that the “preventable” diseases are just too rare anymore to ever take “the risk” of a vaccine with “known” risks. These vaccine risks are clearly explained, and even sometimes overstated (such as a risk of death for Haemophilus influenzae type B (HIB) vaccine) in the routinely distributed Centers for Disease Control and Prevention (CDC) Vaccine Information Sheet (VIS). On the other hand, the families typically overlook the risks of “omission,” or non-vaccination, such as brain damage or meningitis, etc., which are also clearly stated in the VIS.