Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination.

Concerns about genetic discrimination (GD) often surface when discussing research and innovation in genetics. Over recent decades, countries around the world have attempted to address GD using various policy measures. In this article, we survey these approaches and provide a critical commentary on their advantages and disadvantages. Our examination begins with regions featuring extensive policy-making activities (North America and Europe), followed by regions with moderate policy-making activities (Australia, Asia, and South America) and regions with minimal policy-making activities (the Middle East and Africa). Our analysis then turns to emerging issues regarding genetic testing and GD, including the expansion of multiomics sciences and direct-to-consumer genetic tests outside the health context. We additionally survey the shortcomings of current normative approaches addressing GD. Finally, we conclude by highlighting the evolving nature of GD and the need for more innovative policy-making in this area.

Concordance of International Regulation of Pediatric Health Research.

OBJECTIVE: To assess the comparability of international ethics principles and practices used in regulating pediatric research as a first step in determining whether reciprocal deference for international ethics review is feasible. Prior studies by the authors focused on other aspects of international health research, such as biobanks and direct-to-participant genomic research. The unique nature of pediatric research and its distinctive regulation by many countries warranted a separate study. STUDY DESIGN: A representative sample of 21 countries was selected, with geographical, ethnic, cultural, political, and economic diversity. A leading expert on pediatric research ethics and law was selected to summarize the ethics review of pediatric research in each country. To ensure the comparability of the responses, a 5-part summary of pediatric research ethics principles in the US was developed by the investigators and distributed to all country representatives. The international experts were asked to assess and describe whether principles in their country and the US were congruent. Results were obtained and compiled in the spring and summer of 2022. RESULTS: Some of the countries varied in their conceptualization or description of one or more ethical principles for pediatric research, but overall, the countries in the study demonstrated a fundamental concordance. CONCLUSIONS: Similar regulation of pediatric research in 21 countries suggests that international reciprocity is a viable strategy.

The Illusion of Health Privacy in Obstetrics-Gynecology.

Many health professionals and patients erroneously believe that professional ethics and laws protect the privacy of sensitive records in obstetrics-gynecology. The Health Insurance Portability and Accountability Act Privacy Rule permits disclosure of health records without authorization for public health, law enforcement, and other reasons. Individuals also may be compelled to authorize the release of their records in applying for employment, life insurance, or government benefits. Disclosure of sensitive health information has increased because of comprehensive electronic health records, patient-developed data from mobile devices, consolidation of medical practices, and law enforcement interest in reproductive health records attributable to the change in abortion laws.

Ensuring Compliance With Quarantine by Undocumented Immigrants and Other Vulnerable Groups: Public Health Versus Politics.

A successful quarantine requires a high rate of compliance by individuals with potential exposure to a communicable disease.Many individuals would be reluctant to comply with a quarantine because they fear that contact with government officials will place them in legal, personal, or economic jeopardy. These include undocumented immigrants and individuals with a substance use disorder. For a quarantine to succeed, individuals must be granted temporary immunity from arrest, deportation, or similar adverse consequences, but doing so will be politically unpopular.We argue that public health considerations must take precedence over politics in protecting the health of the public.

Reconsidering the duty to warn genetically at-risk relatives.

The duty to warn genetically at-risk relatives of patients is one of the most misunderstood legal and ethical issues affecting clinical genetics. The legal doctrines are often associated with three state appellate court cases beginning in the mid-1990s. Since the HIPAA Privacy Rule went into effect in 2003, the duty to warn must be accomplished by warning the patient of the genetic nature of a diagnosed disorder or genetic risk and the necessity of warning at-risk relatives. Health-care providers are neither required nor permitted to warn at-risk relatives without the consent of their patients. Having warnings issued by the patient most closely aligns with traditional ethical principles and the interests of the parties. Physicians and other health-care providers can assist their patients by preparing jargon-free explanations of the genetic risk and offering consultation or referral services. In the future, the need for warnings is less likely to be triggered by diagnoses and more likely to be based on predictive information derived from genome sequencing and other technologies and data sources.

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.

PURPOSE: Eliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic medicine. A valid instrument should be easily understood without extensive pretest counseling while still faithfully eliciting patients' preferences. METHODS: We conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role that preferences should play. We then developed and refined a draft instrument and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities. RESULTS: Patients preferred filtering of secondary genomic results to avoid information overload and to avoid learning what the future holds, among other reasons. Patients preferred to make autonomous choices about which categories of results to receive and to have their choices applied automatically before results are returned to them and their clinicians. The Preferences Instrument for Genomic Secondary Results (PIGSR) is designed to be completed by patients or research participants without assistance and to guide bioinformatic analysis of genomic raw data. Most participants wanted to receive all secondary results, but a significant minority indicated other preferences. CONCLUSIONS: Our novel instrument-PIGSR-should be useful in a wide variety of clinical and research settings.Genet Med 19 3, 337-344.

LIMITING OCCUPATIONAL MEDICAL EVALUATIONS UNDER THE AMERICANS WITH DISABILITIES ACT AND THE GENETIC INFORMATION NONDISCRIMINATION ACT.

Although medical care delivery by one's personal physician is the paradigmatic American healthcare arrangement, in the workplace setting, many Americans undergo medical evaluations to assess their fitness for duty or degree of impairment. This Article explores the complex and evolving legal status of occupational medical evaluations. Beginning with the legal and ethical frameworks of occupational medical practice, the Article then examines the effects of increasingly detailed legal regulation under the Americans with Disabilities Act and the Genetic Information Nondiscrimination Act on employees, employers, and physicians.

Ethical, legal, and social implications of incorporating genomic information into electronic health records.

The inclusion of genomic data in the electronic health record raises important ethical, legal, and social issues. In this article, we highlight these challenges and discuss potential solutions. We provide a brief background on the current state of electronic health records in the context of genomic medicine, discuss the importance of equitable access to genome-enabled electronic health records, and consider the potential use of electronic health records for improving genomic literacy in patients and providers. We highlight the importance of privacy, access, and security, and of determining which genomic information is included in the electronic health record. Finally, we discuss the challenges of reporting incidental findings, storing and reinterpreting genomic data, and nondocumentation and duty to warn family members at potential genetic risk.

Recommendations for returning genomic incidental findings? We need to talk!

The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.

Does consent bias research?

Researchers increasingly rely on large data sets of health information, often linked with biological specimens. In recent years, the argument has been made that obtaining informed consent for conducting records-based research is unduly burdensome and results in "consent bias." As a type of selection bias, consent bias is said to exist when the group giving researchers access to their data differs from the group denying access. Therefore, to promote socially beneficial research, it is argued that consent should be unnecessary. After analyzing the biostatistics evidence and bioethics arguments, the article concludes that (1) claims about the amount of consent bias are overstated; (2) commonly used statistical methods usually can account for consent bias; and (3) any residual effects of consent bias are below an acceptable level of imprecision and constitute a reasonable social cost for conducting ethically responsible research.