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Over the past two decades, the study of ancient genomes from Ancestral humans, or human paleogenomic research, has expanded rapidly in both scale and scope. Ethical discourse has subsequently emerged to address issues of social responsibility and scientific robusticity in conducting research. Here, we highlight and contextualize the primary sources of professional ethical guidance aimed at paleogenomic researchers. We describe the tension among existing guidelines, while addressing core issues such as consent, destructive research methods, and data access and management. Currently, there is a dissonance between guidelines that focus on scientific outcomes and those that hold scientists accountable to stakeholder communities,such as descendants. Thus, we provide additional tools to navigate the complexities of ancient DNA research while centering engagement with stakeholder communities in the scientific process.

The ethics of the scientific study of Ancestors has long been debated by archaeologists, bioanthropologists, and, more recently, ancient DNA (aDNA) researchers. This article responds to the article “Ethics of DNA research on human remains: five globally applicable guidelines” published in 2021 in Nature by a large group of aDNA researchers and collaborators. We argue that these guidelines do not sufficiently consider the interests of community stakeholders, including descendant communities and communities with potential, but yet unestablished, ties to Ancestors. We focus on three main areas of concern with the guidelines. First is the false separation of “scientific” and “community” concerns and the consistent privileging of researcher perspectives over those of community members. Second, the commitment of the guidelines’ authors to open data ignores the principles and practice of Indigenous Data Sovereignty. Further, the authors argue that involving community members in decisions about publication and data sharing is unethical. We argue that excluding community perspectives on “ethical” grounds is convenient for researchers, but it is not, in fact, ethical. Third, we stress the risks of not consulting communities that have established or potential ties to Ancestors, using two recent examples from the literature. Ancient DNA researchers cannot focus on the lowest common denominator of research practice, the bare minimum that is legally necessary. Instead, they should be leading multidisciplinary efforts to create processes to ensure communities from all regions of the globe are identified and engaged in research that affects them. This will often present challenges, but we see these challenges as part of the research, rather than a distraction from the scientific endeavor. If a research team does not have the capacity to meaningfully engage communities, questions must be asked about the value and benefit of their research.

The use of genetic and genomic technology to infer ancestry is commonplace in a variety of contexts, particularly in biomedical research and for direct-to-consumer genetic testing. In 2013 and 2015, two roundtables engaged a diverse group of stakeholders toward the development of guidelines for inferring genetic ancestry in academia and industry. This report shares the stakeholder groups’ work and provides an analysis of, commentary on, and views from the groundbreaking and sustained dialogue. We describe the engagement processes and the stakeholder groups’ resulting statements and proposed guidelines. The guidelines focus on five key areas: application of genetic ancestry inference, assumptions and confidence/laboratory and statistical methods, terminology and population identifiers, impact on individuals and groups, and communication or translation of genetic ancestry inferences. We delineate the terms and limitations of the guidelines and discuss their critical role in advancing the development and implementation of best practices for inferring genetic ancestry and reporting the results. These efforts should inform both governmental regulation and self-regulation.

Summary Genetic information is increasingly used at US border entry points, but the use of DNA in immigration contexts is not new. DNA testing for verification of identity or relationships for visa and asylum petitions began in the 1980s. Long-standing applications demonstrate both the utility and pitfalls of DNA testing in immigration contexts. Some of these pitfalls are shared with health-related contexts of DNA testing, but the power of government officials to deny immigration benefits, separate families, or make accusations of fraud among a vulnerable population elevates the potential harms, including stigmatization, discrimination, and coerced consent. We conducted semi-structured interviews with professional stakeholders on their understandings of the process of DNA testing, opinions on the role of DNA testing in immigration, and experiences with DNA applications in immigration. From the 22 interviews, we sourced 21 case examples involving DNA testing and supplemented these with 10 case examples provided by the study team. The 31 case examples capture instances of DNA testing for relationship or identity across five immigration contexts. Using the case examples, we developed three overarching utilities and six overarching pitfalls of DNA testing that apply across these immigration contexts. Our framework allows long-standing applications of DNA testing in immigration to inform stakeholders’ approaches to applications in new contexts. As the use of DNA data in immigration contexts expands, its implementation should recognize the utility of DNA data to both migrants and government while guarding against pitfalls that could undermine the human rights and dignity of a vulnerable population., The United States is expanding its use of relationship DNA testing in immigration contexts in volume and scope. Drawing on known case examples from interviews with professional stakeholders, we present a framework for understanding the utilities and pitfalls of relationship DNA testing across emergent use contexts.

In recent years, third-party genetic interpretation services have emerged to help individuals understand their raw genetic data obtained from researchers, clinicians, and direct-to-consumer genetic testing companies. The objectives of these services vary but include matching users to genetic relatives, selling customized diet and fitness plans, and providing health risk assessments. As these services proliferate, concerns are being raised about their accuracy, safety, and privacy practices. Thus far, US regulatory agencies have not taken an official position with respect to third-party genetic interpretation services, which has caused uncertainty regarding whether and how they might be regulated. To clarify this area, we analyzed their potential oversight by four US agencies that generally have been active in the regulation of genetic testing services and information: the Centers for Medicare and Medicaid Services, the Food and Drug Administration, the Department of Health and Human Services’ Office of Civil Rights, and the Federal Trade Commission. We conclude that the scope of federal jurisdiction over third-party genetic interpretation services—while limited—could be appropriate at this time, subject to agency clarification and appropriate exercise of oversight.

Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the response to ancestry results. Ancestry results were generated for 3466 individuals. Of those, 1317 accessed their results, and 322 individuals completed an ancestry response survey, in other words, approximately one in ten who received ancestry testing responded to the survey. Self-reported race/ethnicity was predictive of those most likely to view their results. While 46% of survey responders (N = 147) reported their ancestry results as surprising or unexpected, less than 1% (N = 3) were distressed by them. Importantly, however, 21% (N = 67) reported that their results reshaped their personal identity. Most (81%; N = 260) planned to share results with family, and 12% (N = 39) intended to share results with a healthcare provider. Many (61%; N = 196) reported test benefits (e.g., health insights), while 12% (N = 38) reported negative aspects (e.g., lack of utility). Over half (N = 162) reported being more likely to have other genetic tests in the future. DNA ancestry testing affected individuals with respect to personal identity, intentions to share genetic information with family and healthcare providers, and the likelihood to engage with other genetic tests in the future. These findings have implications for medical care and research, specifically, provider readiness to engage with genetic ancestry information. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12687-020-00481-5) contains supplementary material, which is available to authorized users.

Anticipating and addressing the social implications of scientific work is a fundamental responsibility of all scientists. However, expectations for ethically sound practices can evolve over time as the implications of science come to be better understood. Contemporary researchers who work with ancient human remains, including those who conduct ancient DNA research, face precisely this challenge as it becomes clear that practices such as community engagement are needed to address the important social implications of this work. To foster and promote ethical engagement between researchers and communities, we offer five practical recommendations for ancient DNA researchers: (1) formally consult with communities; (2) address cultural and ethical considerations; (3) engage communities and support capacity building; (4) develop plans to report results and manage data; and (5) develop plans for long-term responsibility and stewardship. Ultimately, every member of a research team has an important role in fostering ethical research on ancient DNA.

Personalized genetic information is not widely utilized as a resource in learning environments, in part because of concerns about data privacy and the treatment of sensitive personal information. Here we describe the implementation of a curriculum centered on analyzing personalized genetic-ancestry test results during two-week science summer camps for middle-school-aged youth. Our research focused on how the examination of personalized DNA results affected learners’ subsequent perceptions and performance, as measured by in-camp pre- and post-tests and surveys, analysis of voluntary student talk captured by audio and video recordings, and periodic one-on-one post-camp follow-ups. The curriculum was grounded in Next Generation Science Standards (NGSS) and focused around the central question of “Who am I?” Campers approached this question via guided lessons designed to shed light on their genetic uniqueness, the many attributes of their genotype and phenotype shared with others, their more distant genetic and evolutionary ancestries, and their roles as active agents in the healthy continuation of their lives. Data relevant to these questions came from edited subsets of ancestry-informative single-nucleotide polymorphisms (SNPs) and phenotype-related SNPs from the campers’ genotype results, which their parents had received from a direct-to-consumer vendor. Our approaches to data privacy and the discovery, disclosure, and discussion of sensitive information on paternity, carrier status, and ancestry can be usefully applied and modified for many educational contexts. On the basis of our pilot implementations, we recommend additional and expanded research on how to incorporate personalized genetic ancestry information in a variety of learning contexts.

Background Employer‐sponsored corporate wellness programs have spread despite limited evidence of effectiveness in improving health or reducing costs. Some programs have offered genetic testing as a benefit to employees, but little is known about this practice. Methods In December 2019, we conducted a systematic Google search to identify vendors offering corporate wellness programs involving genetics. We performed qualitative content analysis of publicly available information about the vendors’ products and practices disclosed on their websites. Results Fifteen vendors were identified. Details regarding genetic testing offered within wellness programs were difficult to decipher from vendors’ websites, including which specific products were included. No evidence was provided to support vendor claimed improvements in employer costs, employee health, and job performance. Only half offered health and genetic counseling services. Most vendors were ambiguous regarding data sharing. Disclaimer language was included in vendors’ stated risks and limitations, ostensibly to avoid oversight and liability. Conclusion We found a lack of transparency among corporate wellness program vendors, underscoring challenges that stakeholders encounter when trying to assess (a) how such programs are using genetics, (b) the potential benefits of such applications, and (c) the adequacy of protections to ensure scientific evidence support any health claims and genetic nondiscrimination.

Purpose The clinical utility of screening unselected individuals for pathogenic BRCA1/2 variants has not been established. Data on cancer risk management behaviors and diagnoses of BRCA1/2-associated cancers can help inform assessments of clinical utility. Methods Whole-exome sequences of participants in the MyCode Community Health Initiative were reviewed for pathogenic/likely pathogenic BRCA1/2 variants. Clinically confirmed variants were disclosed to patient–participants and their clinicians. We queried patient–participants’ electronic health records for BRCA1/2-associated cancer diagnoses and risk management that occurred within 12 months after results disclosure, and calculated the percentage of patient–participants of eligible age who had begun risk management. Results Thirty-seven MyCode patient–participants were unaware of their pathogenic/likely pathogenic BRCA1/2 variant, had not had a BRCA1/2-associated cancer, and had 12 months of follow-up. Of the 33 who were of an age to begin BRCA1/2-associated risk management, 26 (79%) had performed at least one such procedure. Three were diagnosed with an early-stage, BRCA1/2-associated cancer—including a stage 1C fallopian tube cancer—via these procedures. Conclusion Screening for pathogenic BRCA1/2 variants among unselected individuals can lead to occult cancer detection shortly after disclosure. Comprehensive outcomes data generated within our learning healthcare system will aid in determining whether population-wide BRCA1/2 genomic screening programs offer clinical utility.

In April 2018, the U.S. implemented a “zero-tolerance” immigration policy that would lead to the separation of more than 2,000 migrant families over the following months. By that summer, the policy and resultant family separations had generated a media storm that swept up the public. In early June, the government announced its consideration of DNA testing to aid in the detection of human trafficking in immigration contexts. Later that month, as the government retracted the child separation policy, the public began questioning how children and adults would be reunited and discussing the potential usefulness of DNA testing for those reunifications. Then in early July, the government announced that DNA testing was indeed being used, and by mid-month the public’s outrage over the use of DNA was strong. We set out to examine the public dialogue on DNA testing—including misunderstandings and miscommunications—both in newspaper coverage and on Twitter in the 2-month summer period of 2018, at the height of public discussion of migrant family separations and then reunifications. We performed database searches identifying 263 newspaper articles and used Twitter’s advanced search function identifying 153 Tweets containing discussion of the use of DNA for migrant family reunification. Upon the resulting sources, we performed content analysis, analyzing for slant on the immigration policy and the use of DNA tests using a combination of open and closed codes. Our analysis showed that perspectives on the use of DNA diverged in connection with perspectives on the immigration policy, and that there was a contrast among the cohorts in the stated utility of DNA testing. These findings offer insight into a) how DNA testing in a highly politicized immigration context was represented in media coverage and b) the public’s understanding of the role that DNA testing could or should play in immigration. By detailing the role that comments from experts, stakeholders, and the public played in these discussions, we hope to provide lessons for communications with the public about future non-medical applications of genetic technologies.

Editorial summary Genome editing using clustered regularly interspersed short palindromic repeats (CRISPR) and CRISPR-associated proteins offers the potential to facilitate safe and effective treatment of genetic diseases refractory to other types of intervention. Here, we identify some of the major challenges for clinicians, regulators, and human research ethics committees in the clinical translation of CRISPR-mediated somatic cell therapy.

Summary As genomic medicine expands, interest in how medical malpractice law will apply to such questions as whether and when to return new or updated genomic results has grown. Given that access to some genomic results (such as those pertaining to minors or those for which scientific interpretations are unsettled) is delayed for years, the “loss of chance” (LOC) doctrine is of particular potential relevance. Yet it has received relatively little attention among scholars of law and genomics. We performed legal research to determine the status of this malpractice doctrine across the United States and consider its potential applicability to genomic medicine. We further examined known genomic medicine malpractices to assess whether this doctrine had yet been invoked in that context. We identified a trend toward adoption of the LOC doctrine, finding 29 states (58%) have adopted, 15 states (30%) have rejected, and six states (12%) have deferred or not yet addressed the doctrine. Attempts to invoke or apply the doctrine in the known genomic medical malpractice cases were also found. While our findings do not provide cause for substantial concern, the availability of the LOC medical malpractice doctrine is a potentially important factor to consider when making programmatic decisions for genomic medicine. Future research examining whether liability risks posed by this doctrine prompt defensive medicine practices would be useful.

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

Forensic DNA methodologies have potential applications in the investigation of human trafficking cases. DNA and relationship testing may be useful for confirmation of biological relationship claims in immigration, identification of trafficked individuals who are missing persons, and family reunification of displaced individuals after mass disasters and conflicts. As these applications rely on the collection of DNA from non-criminals and potentially vulnerable individuals, questions arise as to how to address the ethical challenges of collection, security, and privacy of collected samples and DNA profiles. We administered a survey targeted to victims' advocates to gain preliminary understanding of perspectives regarding human trafficking definitions, DNA and sex workers, and perceived trust of authorities potentially involved in DNA collection. We asked respondents to consider the use of DNA for investigating adoption fraud, sex trafficking, and post-conflict child soldier cases. We found some key differences in perspectives on defining what qualifies as "trafficking." When we varied terminology between "sex worker" and "sex trafficking victim" we detected differences in perception on which authorities can be trusted. Respondents were supportive of the hypothetical models proposed to collect DNA. Most were favorable of DNA specimens being controlled by an authority outside of law enforcement. Participants voiced concerns focused on privacy, misuse of DNA samples and data, unintentional harms, data security, and infrastructure. These preliminary data indicate that while there is perceived value in programs to use DNA for investigating cases of human trafficking, these programs may need to consider levels of trust in authorities as their logistics are developed and implemented. Keywords: Human trafficking Language: en

Patients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project ( www.simonsvipconnect.org ) and GenomeConnect ( www.genomeconnect.org ). Over a three-month period, invitations were sent to 2524 individuals and 103 responses (4%) were received and analyzed. Responses indicate that Facebook is the most popular resource accessed within this sample population (99%). Participants used social media to look for information about their diagnosis or test results (83%), read posts from rare disease groups or organizations (73%), participate in conversations about their diagnosis (67%), and connect with others to find support (58%). Focusing on privacy issues in social media, respondents indicate that membership and access impact the level of comfort in sharing personal or medical information. Nearly 60% of respondents felt uncomfortable sharing photos or medical information within a public Facebook group, whereas only 12% of respondents felt uncomfortable sharing in private group targeted to families alone. Using this preliminary data concerning social media use and privacy, we developed points for genetic counselors to incorporate when discussing available support resources for patients with a new, or rare, genetic diagnosis or genetic test result. Genetic counselors are trained to provide anticipatory guidance to families adapting to new genetic information, and are well-equipped to help patients consider their preferences about using social media as a source of information and support.

Genet Med advance online publication 27 October 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.165.

Discussions about direct-to-consumer (DTC) DNA ancestry tests have to date been based primarily on conjectures, speculation, and anecdotes, despite the industry being more than a decade old. Representative, empirical data on consumer characteristics; motivations and expectations for testing; intended uses for the information; understanding of results; and behavioral and psychological reactions to the tests are absent. Although the 2010 American Society of Human Genetics white paper clarifies the number and some general characteristics of companies marketing and selling DNA ancestry tests, additional data about the industry’s practices have been unavailable. To promote a data-driven discussion of the DNA ancestry testing industry, we conducted a systematic investigation to identify companies selling DNA ancestry tests and conducted an empirical study of the industry’s practices using data collected from each company’s website. Here, we present a wealth of data, including an updated directory of companies, marketing slogans, product types and names, range of prices, diversity of reporting and representing results, noted benefits and limitations of testing, and a host of website practices. The tremendous diversity of tests, information, and practices of companies in the DNA ancestry sector should be considered when policies for best practice guidelines or regulatory oversight are being developed. Genet Med 2012:14(6):586–593

The DNA ancestry testing industry is more than a decade old, yet details about it remain a mystery: there remain no reliable, empirical data on the number, motivations, and attitudes of customers to date, the number of products available and their characteristics, or the industry customs and standard practices that have emerged in the absence of specific governmental regulations. Here, we provide preliminary data collected in 2009 through indirect and direct participant observation, namely blog post analysis, generalized survey analysis, and targeted survey analysis. The attitudes include the first available data on attitudes of those of individuals who have and have not had their own DNA ancestry tested as well as individuals who are members of DNA ancestry-related social networking groups. In a new and fluid landscape, the results highlight the need for empirical data to guide policy discussions and should be interpreted collectively as an invitation for additional investigation of (1) the opinions of individuals purchasing these tests, individuals obtaining these tests through research participation, and individuals not obtaining these tests; (2) the psychosocial and behavioral reactions of individuals obtaining their DNA ancestry information with attention given both to expectations prior to testing and the sociotechnical architecture of the test used; and (3) the applications of DNA ancestry information in varying contexts.

Human facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population samples with mixed West African and European ancestry from three locations (United States, Brazil, and Cape Verde). Using bootstrapped response-based imputation modeling (BRIM), we uncover the relationships between facial variation and the effects of sex, genomic ancestry, and a subset of craniofacial candidate genes. The facial effects of these variables are summarized as response-based imputed predictor (RIP) variables, which are validated using self-reported sex, genomic ancestry, and observer-based facial ratings (femininity and proportional ancestry) and judgments (sex and population group). By jointly modeling sex, genomic ancestry, and genotype, the independent effects of particular alleles on facial features can be uncovered. Results on a set of 20 genes showing significant effects on facial features provide support for this approach as a novel means to identify genes affecting normal-range facial features and for approximating the appearance of a face from genetic markers., Author Summary The face is perhaps the most inherently fascinating and aesthetic feature of the human body. It is a principle subject of art throughout human history and across cultures and populations. It provides the most significant means by which we communicate our emotions and intentions in addition to health, sex, and age. And yet features such as the strength of the brow ridge, the spacing between the eyes, the width of the nose, and the shape of the philtrum are largely scientifically unexplained. Here, we use a novel method to measure face shape in population samples with mixed West African and European ancestry from three locations (United States, Brazil, and Cape Verde). We show that facial variation with regard to sex, ancestry, and genes can be systematically studied with our methods, allowing us to lay the foundation for predictive modeling of faces. Such predictive modeling could be forensically useful; for example, DNA left at crime scenes could be tested and faces predicted in order to help to narrow the pool of potential suspects. Further, our methods could be used to predict the facial features of descendants, deceased ancestors, and even extinct human species. In addition, these methods could prove to be useful diagnostic tools.

Discourse on the integration of personal genetics and genomics into classrooms is increasing; however, limited data have been collected on the perspectives of students and professors. We conducted a cross-sectional survey of undergraduate and graduate students as well as professors at two major universities to assess attitudes regarding the use of personal DNA testing and other personalized activities in college classrooms. Students indicated that they were more likely to enroll (60.2%) in a genetics course if it offered personal DNA testing; undergraduate students were more likely than graduate students to enroll if personal DNA testing was offered (p=0.029). Students who majored in the physical sciences were less likely to enroll than students in the biological or social sciences (p=0.019). Students also indicated that when course material is personalized, the course is more interesting (94.6%) and the material is easier to learn (87.3%). Professors agreed that adding a personalized element increases student interest, participation, and learning (86.0%, 82.6%, and 72.6%, respectively). The results of this study indicate that, overall, students and professors had a favorable view of the integration of personalized information, including personal DNA testing, into classroom activities, and students welcomed more opportunities to participate in personalized activities.

How the FDA should regulate direct-to-consumer genetic tests is fiercely contested. Passing a rule or issuing an order is only one down in the series. There is more to the regulatory game.

It is possible to estimate the proportionate contributions of ancestral populations to admixed individuals or populations using genetic markers, but different loci and alleles vary considerably in the amount of information that they provide. Conventionally, the allele frequency difference between parental populations (d) has been used as the criterion to select informative markers. However, it is unclear how to use d for multiallelic loci, or populations formed by the mixture of more than two groups. Moreover, several other factors, including the actual ancestral proportions and the relative genetic diversities of the parental populations, affect the information provided by genetic markers. We demonstrate here that using d as the sole criterion for marker selection is inadequate, and we propose, instead, to use Fisher’s information, which is the inverse of the variance of the estimated ancestral contributions. This measure is superior because it is directly related to the precision of ancestry estimates. Although d is related to Fisher’s information, the relationship is neither linear nor simple, and the information can vary widely for markers with identical ds. Fortunately, Fisher’s information is easily computed and formally extends to the situation of multiple alleles and/or parental populations. We examined the distribution of information for SNP and microsatellite loci available in the public domain for a variety of model admixed populations. The information, on average, is higher for microsatellite loci, but exceptional SNPs exceed the best microsatellites. Despite the large number of genetic markers that have been identified for admixture analysis, it appears that information for estimating admixture proportions is limited, and estimates will typically have wide confidence intervals. & 2004 Wiley-Liss, Inc. n