A scoping review of genetics and genomics research ethics policies and guidelines for Africa.

BACKGROUND: Genetics and genomics research (GGR) is increasingly being conducted around the world; yet, researchers and research oversight entities in many countries have struggled with ethical challenges. A range of ethics and regulatory issues need to be addressed through comprehensive policy frameworks that integrate with local environments. While important efforts have been made to enhance understanding and awareness of ethical dimensions of GGR in Africa, including through the H3Africa initiative, there remains a need for in-depth policy review, at a country-level, to inform and stimulate local policy development and revision on the continent. METHODS: To identify and characterize existing ethics-related guidelines and laws applicable to GGR across much of Africa, we conducted a scoping review of English language policy documents identified through databases, repositories, and web searches. Thirty-six documents were included and coded using a framework that contained a range of themes across five analytical categories: (1) respect, (2) beneficence, (3) justice, (4) independent oversight, and (5) bans and prohibitions. Data analysis software (NVivo 12) was used to organize, code, and tabulate information according to document characteristics and topics. Illustrative examples of policy requirements were selected for inclusion. RESULTS: Documents that met inclusion criteria spanned 20 years; published between 1996 and 2018, with the majority (58%) published after 2009. About two-thirds were denoted as "guidelines," and slightly more than half were non-exclusive to GGR. Very few (six) country-level documents identified were specific to GGR. Requirements related to the principle of "respect" appeared most often across all documents, relative to other principles and processes. The most commonly stated ban was on reproductive cloning. Other prohibitions applied to germline editing, undue inducements in research, sample use for commercial purposes, employee mandatory DNA testing, fetal sex selection, stem cell use, eugenics, and research without public health benefits. CONCLUSIONS: Enforceable policies that are indispensable to the ethical conduct and review of GGR are either deficient or missing in many African countries. Existing international, GGR-specific ethics guidelines can be used to inform GGR policy development at a country-level, in conjunction with insight from country specific ethics committees and other local stakeholders.

Opt-in or out? Public perspectives on forensic DNA kinship investigations within the Dutch-speaking community.

Forensic DNA kinship investigation involves analyzing genetic relationships between individuals to offer new leads for solving (cold) cases. Familial DNA matching has become a valuable asset in criminal case investigations, especially when traditional DNA methods hit dead ends. However, concerns surrounding ethical and privacy implications raised questions about its implementation and acceptance among the general public. The present study investigated the public perspectives regarding forensic DNA kinship investigations among 1710 Dutch-speaking Belgians using an online cross-sectional survey. The questionnaire consisted of three categories, including personal information, DNA knowledge, and their opinion on several familial DNA searching and investigative genetic genealogy related questions. The participants' average DNA knowledge score was 71 %, indicating a relatively high level of understanding of DNA-related concepts. Remarkably, the study revealed that 92 % of the participants expressed willingness to cooperate as a volunteer in a forensic DNA kinship investigation, irrespective of their scientific background or educational level. Key factors influencing participation included assurance of painless sampling and robust privacy safeguards. Participants lacking familiarity with DNA hesitated more towards participating in forensic DNA analysis, referring to "the fear of the unknown". Despite ethical and privacy concerns, the highly positive attitude towards forensic DNA analysis reflects a level of empathy and willingness to contribute to the pursuit of justice. Nearly all participants (95 %) agreed to use online DNA databases for resolving violent crimes with forensic genetic genealogy, but half emphasized the need for prior informed consent, referring to the current "opt-in" system. The results underscore the need for stringent regulations and ethical oversight to ensure the responsible use of genetic data while striking a balance between public safety and the protection of individuals' privacy rights. These findings add to the growing body of evidence regarding the potential benefits of forensic DNA kinship matching as a tool in criminal investigations, suggesting its potential future utilization and legalization.

Young Women's Perspectives on Being Screened for Hereditary Breast and Ovarian Cancer Risk During Routine Primary Care.

PURPOSE: The U.S. Preventive Services Task Force recommends screening women to identify individuals eligible for genetic counseling based on a priori hereditary breast and ovarian cancer syndrome (HBOC) risk (i.e., risk assessment). However, risk assessment has not been widely integrated into primary care. This qualitative study explored young women's views on implementing routine HBOC risk assessment with a focus on equity and patient-centeredness. METHODS: We conducted group discussions with young women (aged 21-40 years) receiving care in an integrated health care system. Discussion groups occurred in two phases and used a modified deliberative approach that included a didactic component and prioritized developing consensus. Twenty women participated in one of three initial small group discussions (phase one). All 20 were invited to participate in a subsequent large group discussion (phase two), and 15 of them attended. FINDINGS: Key themes and recommendations were as follows. Risk assessment should be accessible, contextualized, and destigmatized to encourage participation and reduce anxiety, particularly for women who do not know their family history. Providers conducting risk assessments must be equipped to address women's informational needs, relieve emotionality, and plan next steps after positive screens. Finally, to minimize differential screening uptake, health care systems must prioritize equity in program design and contribute to external educational and outreach efforts. CONCLUSION: Young women see pragmatic opportunities for health systems to optimize HBOC screening implementation.

Direct-to-consumer genetic testing in the news: a descriptive analysis.

Direct-to-consumer genetic testing (DTC GT) diagnostic tools do not entail referral through a healthcare provider and are used by consumers to screen for genetic health risk, pharmacogenomics, and predisposition to certain diseases and to learn more about ancestry. The purpose of this study was to describe the content of DTC DNA online news articles - specifically to characterize how rising concerns related to consumer privacy, medical advancements, and bioethics are covered in online news as access to these testing kits continues to grow. One hundred news articles identified on Google News using the search term "direct to consumer DNA testing" were coded for pre-determined content categories. Only 34.0% of news articles were created by healthcare professionals. Only 10.0% of online news articles mentioned testing confidentiality and privacy protection. Articles that mentioned > 5 commercial DTC DNA products more often discussed how DTC DNA testing provides personalized information about health and link to family disease risk and other traits (85.7% vs. 61.1%, p = 0.02), can lead to the location of family members or ancestors (78.6% vs. 55.63%, p = 0.03), and that the testing results housed in DNA databases can be utilized by law enforcement to track suspects or their relatives (32.1% vs. 9.7%, p = 0.01). Articles that mentioned ≤ 5 commercial DTC DNA products failed to mention that there exists a potential for data breaches (75.0% vs. 53.6%, p = 0.04). Online news articles should adequately inform consumers regarding the benefits and risks of DTC GT tests to facilitate informed decision-making.

Genomic testing in voluntary workplace wellness programs in the US: Evidence and challenges.

BACKGROUND: Workplace genetic and/or genomic testing (wGT) is one of many options that employers can offer within the scope of voluntary workplace wellness programs, though we know little about how many employers are offering this benefit, or what kinds of testing are included. METHODS: Our landscaping review sought to discover the prevalence and distribution of wGT within voluntary wellness programs among U.S. companies using three approaches: (1) analysis of publicly available information; (2) national surveys; and (3) interviews with company representatives. RESULTS: In total, 50/420 (11.9%) companies we investigated had publicly available data suggesting that they offer wGT to their employees. Survey data weighted to be representative of the type and distribution of U.S. companies suggest that ~1% of U.S. companies offer wGT to their employees. CONCLUSION: Our research found little evidence of broad uptake of wGT among U.S. companies, though information gathering was challenging.

Voluntary workplace genomic testing: wellness benefit or Pandora's box?

Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic and genomic testing services, including testing for pharmacogenomic and pathogenic variants, to employers for inclusion in workplace wellness programs. We describe the appeal of voluntary workplace genomic testing (wGT) to employers and employees, how the ethical, legal, and social implications literature has approached the issue of genetic testing in the workplace in the past, and outline the relevant legal landscape. Given that we are in the early stages of development of the wGT market, now is the time to identify the critical interests and concerns of employees and employers, so that governance can develop and evolve along with the wGT market, rather than behind it, and be based on data, rather than speculative hopes and fears.