Commercial DNA Testing Research Articles

A contextual integrity approach to genomic information: what bioethics can learn from big data ethics

Genomic data is generated, processed and analysed at an increasingly rapid pace. This data is not limited to the medical context, but plays an important role in other contexts in society, such as commercial DNA testing, the forensic setting, archaeological research, and genetic surveillance. Genomic information also crosses the borders of these domains, e.g. forensic use of medical genetic information, insurance use of medical genomic information, or research use of commercial genomic data. This paper (1) argues that an informed consent approach for genomic information has limitations in many societal contexts, and (2) seeks to broaden the bioethical debate on genomic information by suggesting an approach that is applicable across multiple societal contexts. I argue that the contextual integrity framework, a theory rooted in information technology and big data ethics, is an effective tool to explore ethical challenges that arise from genomic information within a variety of different contexts. Rather than focusing on individual control over information, the contextual integrity approach holds that information should be shared and protected according to the norms that govern certain distinct social contexts. Several advantages of this contextual integrity approach will be discussed. The paper concludes that the contextual integrity framework helps to articulate and address a broad spectrum of ethical, social, and political factors in a variety of different societal contexts, while giving consideration to the interests of individuals, groups, and society at large.

Mycobacterium avium Subspecies paratuberculosis in Asymptomatic Zoo Herbivores in Poland

Mycobacterial infections are significant issues in zoo animals, influencing animal welfare, conservation efforts, and the zoonotic potential of pathogens. Although tuberculosis is recognised to be highly dangerous, paratuberculosis can also lead to animal losses and is potentially dangerous for humans. The aim of the current study was to confirm whether Mycobacterium avium spp. paratuberculosis (MAP) infections are currently present in zoos in Poland. Faeces samples (n = 131) were collected from different animal species from eight zoos in Poland. The faeces were decontaminated and inoculated into Herrold's Egg Yolk Media. The species was determined using commercial DNA testing. The IS900 was checked using RT-PCR. The culture was positive in seven samples: five with M. avium, one with Mycobacterium fortiatum, and one without any identified Mycobacterium species. RT-PCR confirmed MAP genetic material in nine animals. Our findings represent the first confirmation of MAP in bongo (Tragelaphus eurycerus), indicating that it is present in Polish zoological gardens. Fortunately, the disease can be monitored more easily due to recent legislation (the Animal Health Law).

Discovering Misattributed Paternity After DNA Testing and its Impact on Psychological Well-Being and Identity Formation

<i>This study explored how discovering misattributed paternity in adulthood after commercial DNA testing impacts psychological well-being and identity formation. Thirty-three subjects participated in this phenomenological qualitative study. Eighteen had experienced misattributed paternity, while the other 15 subjects discovered misattributed paternity due to being donor conceived. Three fundamental themes emerged in both the misattributed group and donor-conceived group that could be perceived as the core themes are: (a) sadness, grief, and loss; (b) seeking connection and belonging; and (c) betrayal and anger. Other significant themes revealed by both groups included: Otherness, Curiosity, Relief and Comfort, Surprise, Acceptance, and Empathy and Rationalization. Additional themes also revealed by the donor-conceived group, but not revealed in the misattributed group are: (a) existential concerns, (b) self-assuredness, and (c) right to know and advocacy. Overall, findings in this study reveal unique experiences between both groups, suggesting the circumstances around conception and discovery vary depending on misattributed status.</i>

How successful is commercial DNA testing in resolving British & Irish cases of unknown parentage?

This study is the first to characterise the type of people trying to resolve unknown parentage cases in the UK and Ireland, and how successful their efforts are, using commercial DTC (direct-to-consumer) DNA tests. A survey was conducted of individuals born in the UK or Ireland, or with a biological parent from the UK or Ireland, who had used genetic genealogy as a part of their search for one or both biological parents. Success rates were high with DNA assisting the identification of a birth parent in 48-55% of cases. In an additional 20-21% of cases, DNA identified grandparents or more distant ancestors. The majority of those identifying a biological parent did so within 6 months of receiving their DNA results (39-55% of cases), and within 2 years, 78-87%% had identified a biological parent. When they first got their results, 40% had very close matches (half-first cousin or closer), an additional 33% had close matches in the second cousin range, and the remaining 27% had more distant matches. The survey also attempted to assess the likelihood of success of the combined use of GEDmatch and FTDNA in IGG (investigative genetic genealogy) cases in Britain and Ireland and found that potentially IGG-suitable matches were present in about 60% of cases. These results complement those of earlier studies and have important implications for social policy in the UK and Ireland.    Keywords – DNA; genetic genealogy; unknown parentage; adoptee; foundling; unknown father; donor-conceived; survey

‘It takes a village’ – fertility treatment using donor gametes, embryos and/or surrogacy

Key content Fertility treatment using donated gametes and embryos is increasingly common. Indications for the use of donated sperm and oocytes include azoospermia, single women and women in same‐sex relationships, inherited conditions, poor quality embryos or failed fertilisation in previous cycles of assisted reproductive technology, and ovarian insufficiency. Causes of azoospermia and ovarian insufficiency include congenital and genetic disorders, infectious and traumatic conditions, iatrogenic causes and age‐related decline. These treatment cycles have ethical and legal implications and require appropriate pre‐conception counselling and completion of Human Fertilisation and Embryology Authority (HFEA)‐mandated forms to ensure the safety of donors, recipients and any children born as a result of treatment. All donors are screened for infectious diseases and can also be screened for genetic conditions. Sperm donation can be organised outside of recognised fertility clinic settings, which increases the possibility of infection transmission. Compared with cycles using autologous gametes and embryos, treatment outcomes can increase live birth rates and reduce incidence of low birthweight, but may increase hypertensive disorders of pregnancy. Learning objectives To understand the clinical indications for the use of gamete and embryo donation, including potential risks to donors and recipients, and success rates. To learn the practical considerations of donation and procurement processes, screening, quarantine, legal and regulatory aspects in the UK and international comparison. To appreciate special issues, including psychological assessment and support requirements, ethical considerations, intrafamilial donation, commercial DNA testing and family tracing implications. Ethical issues Donors must be made fully aware of the implications of donation and the lack of anonymity once resulting children reach the age of 18, according to UK law. Recipients must be thoroughly counselled regarding the implications and psychological impact of treatment. The HFEA obliges all clinics to offer implications counselling to those undergoing treatment in terms of the impact of treatment on them and how to broach the subject with future children.

New Routes to Mixed “Roots”

Developments in reproductive (e.g., assisted reproduction, surrogacy) and genetic technologies (commercial DNA ancestry testing) have opened new routes to mixedness that disrupt the relationship between multiracialism and family. Discussions of racial mixedness, both academic and lay, tend to refer to persons born to parents of different racialized ancestry. Multiracialism is also understood as an outcome of extended generational descent—a family lineage comprised of ancestors of varied “races”. Both modes of mixed subjectivity rely on a notion of race as transmitted through sexual reproduction, and our study of them has often focused on the implications of this boundary crossing for families. These routes to mixedness imply a degree of intimacy and “knownness” between partners, with implications for the broader web of relationships into which one is born or marries. Assisted reproduction allows for the intentional creation of mixed-race babies outside of sexual reproduction and relationship. These technologies make possible mixed race by design, in which one can choose an egg or sperm donor on the basis of their racial difference, without knowing the donor beyond a set of descriptive characteristics. Commercial DNA testing produces another route to mixedness—mixed by revelation—in which previously unknown mixed ancestry is revealed through genetic testing. Ancestry tests, however, deal in estimations of biogenetic markers, rather than specific persons. To varying degrees, these newer routes to mixedness reconfigure the nexus of biogenetic substance and kinship long foregrounded in American notions of mixedness, expand the contours of mixed-race subjectivity, and reshape notions of interracial relatedness.

Closing the Gaps in Patients’ Data Protection Rights: A Glance Into the Future with a Dutch Case Study

This article discusses the legislative framework of data protection and health law in today’s world where the individual has become an active player in governing his health. The individual’s protection within the traditional treatment relationship between the care provider and the care receiver is subject to substantial changes amidst technological and health innovations. The traditional, clinical health setting is complemented with actors from a non-clinical background, such as commercial companies that provide healthcare deliverables. New mechanisms for data protection and safeguarding data subject’s rights are required. The European Health Data Space Regulation is a good starting point, since it enables individuals to obtain a copy of their health data, to share and rectify these. However, we observe three gaps in the individual’s data protection and his position vis-à-vis commercial companies, i.e. in the domain of legislation, governance and in the interaction between the care provider and care receiver. The individual plays a role as a patient, but also as an individual with a particular lifestyle who uses wearables and buys commercial DNA tests. The individual’s monitoring of his own health with devices does not necessarily fall within the scope of existing European and national legislation on data protection and health. Keywords: European Health Data Space | fundamental rights | individual and informational self-determination | technological innovations

Efficient DNA Profiling Protocols for Disaster Victim Identification

Advances in forensic biology have increased the options for the collection, sampling, preservation and processing of human remains for DNA-based identification. Combined with a plethora of commercial DNA testing kits that are far more forgiving of inhibited and degraded samples, efficient DNA approaches to post-mortem samples are explored here for DNA-based identification of compromised human remains. Approaches which preserve sample and reduce analytical turnaround times whilst saving resources also have the potential to expedite the identification process, to provide answers to grieving families sooner, or to provide leads in a criminal investigation. Targeting sample types that are minimally-invasive and do not require extensive preparation and testing protocols also has benefit for disaster victim identification (DVI) by facilitating field sampling. We have assessed minimally-invasive and simple to collect sample types compatible with minimal pre-treatment and efficient DNA profiling approaches. Incubating nail, distal phalanges and whole digits in 500 µL of PrepFiler™ Lysis Buffer for 2 h was an efficient and simple method, limiting or removing sample preparation. A reduced 15 min incubation also yielded DNA profiles suggesting a shorter incubation may lyse sufficient DNA. Preservative solutions offer an even simpler process in some cases. Furthermore, the efficient approaches described in this study offer storage solutions and are compatible with backend automated processing. This study will inform further research to develop and optimise efficient protocols. These DNA approaches should not be pursued for every sample; more compromised samples may best be submitted to the laboratory for more effective extraction and genotyping.

Commercial DNA tests and police investigations: a broad bioethical perspective

Over 30 million people worldwide have taken a commercial at-home DNA test, because they were interested in their genetic ancestry, disease predisposition or inherited traits. Yet, these consumer DNA data...

HF02-08 FERTILITY FRAUD: INSEMINATION WITH THE DOCTOR′S SPERM IN THE EARLY DAYS OF IN-VITRO FERTILIZATION

You have accessJournal of UrologyHistory of Urology Forum II (HF02)1 Sep 2021HF02-08 FERTILITY FRAUD: INSEMINATION WITH THE DOCTOR′S SPERM IN THE EARLY DAYS OF IN-VITRO FERTILIZATION Mariela Martinez, Jacob Khurgin, and Ariel Schulman Mariela MartinezMariela Martinez More articles by this author , Jacob KhurginJacob Khurgin More articles by this author , and Ariel SchulmanAriel Schulman More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000001993.08AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: In December 1981, Elizabeth Jordan Carr was the first baby born by in-vitro fertilization (IVF) in the United States. The following decade, was marked by rapid scientific advances and clinical demand. Procurement of donor sperm was costly and logistically challenging. A number of fertility doctors used their own sperm to inseminate patient eggs, without disclosure to the families. Here we review the history ‘Fertility Fraud’ in the United States. METHODS: A review of medical, legal, and ethical publications was performed to identify relevant historical information about fertility fraud. RESULTS: Advances in assisted-reproductive technologies began in the late 1800’s and evolved through the 20th century. In the 1970s and 80s, societal acceptance and scientific breakthroughs made IVF widely available but there were barriers to the practice. There were no large sperm banks, sperm donations were anonymous and fertility doctors would often chose sperm donors themselves (often medical students). This was largely unregulated due to the novelty of IVF. In recent years, commercial DNA testing and genealogy tracking by IVF-offspring has revealed that many babies in the 1980’s were conceived with the sperm of the fertility doctor. Some have surmised this was done to increase pregnancies since fresh sperm had higher success rates than frozen sperm and it was cheaper and more convenient than using donor sperm. However, historians and medical ethicists have largely reviewed the practice as immoral and unacceptable. The exact motivations of the physicians remains unclear. To date, fertility fraud has been discovered in at least 12 states. High profile cases in Idaho and Indiana brought about legislation criminalizing insemination without the consent of both the donor and recipient. In 2019, Indiana became the first state to legislate the activity and multiple other states have passed similar laws or have bills moving through the approval process. CONCLUSIONS: IVF is one of the great advances of contemporary medicine, but early clinical use included a practice that today is considered both unethical and illegal. The implications and long term effects on parents and their donor conceived children are yet to be fully understood. As DNA technologies become more widely used, more cases of fertility fraud may be uncovered and further legislation will likely be developed in North America. Source of Funding: None © 2021 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 206Issue Supplement 3September 2021Page: e239-e240 Advertisement Copyright & Permissions© 2021 by American Urological Association Education and Research, Inc.MetricsAuthor Information Mariela Martinez More articles by this author Jacob Khurgin More articles by this author Ariel Schulman More articles by this author Expand All Advertisement Loading ...

About Ancestors

ABSTRACT Though regularly studied as different academic domains, Asian and Oceanian studies are deeply intertwined not only through longstanding political, economic, immigrant – and colonial – ties, but by questions about common ancestry. From popular commercial DNA testing to historical studies in linguistics, folklore, archaeology, biological anthropology, and sophisticated genome sequencing, deep histories of Oceanian Islander peoples have long been tied to ‘origin’ traditions and reconstructions of lineages from the Asian mainland, notably through the Austronesian diaspora. From 19th-century linguistic theories and Lapita sites, to 20th-century ABO blood groupings and contemporary mitochondrial and Y-chromosome DNA assays, scholars have proposed at times conflicting interpretations of Oceania’s possible Asian human heritage. These analyses have themselves been consistently challenged by Indigenous genealogical traditions such as Māori whakapapa and Islander assertions of origins based on ancestral and localized narratives decolonized of Western scientific practices.

A content analysis of direct-to-consumer DNA testing on TikTok.

Despite the fact that the internet is a popular source of health information, limited research has been conducted on the ways in whichdirect-to-consumer (DTC) DNA testing has been discussed by consumers on the internet, and on social media platforms specifically. The purpose of this study was to describe the content of 100 videos that addressed DTC DNA testing on TikTok, a video-sharing social network. The 100 videos included had a combined 77,498 comments and 9,680,309 likes.The majority (> 50%) of videos reviewed mentioned using DTC DNA testing kits to find family roots (94%), included information on commercial DNA testing kits (67%), and featured a person taking or talking about taking a DNA test (92%). These videos also received a majority of the total comments/likes. Neither the use of music (p = .06 and p = .07) nor the mention of using DNA testing to locate family (p = .08 and p = .09) had a significant effect on a video's comments or likes, respectively. Genetic counselors, health care providers, and public health professionals should be aware that there is a need to present both benefits and disadvantages of DTC DNA testing on social media platforms. A greater presence of comprehensive information on social media platforms can increase the likelihood that one makes erudite decisions.

Targeted exome sequencing designed for blood group, platelet, and neutrophil antigen investigations: Proof-of-principle study for a customized single-test system.

Immunohematology reference laboratories provide red blood cell (RBC), platelet (PLT), and neutrophil typing to resolve complex cases, using serology and commercial DNA tests that define clinically important antigens. Broad-range exome sequencing panels that include blood group targets provide accurate blood group antigen predictions beyond those defined by serology and commercial typing systems and identify rare and novel variants. The aim of this study was to design and assess a panel for targeted exome sequencing of RBC, PLT, and neutrophil antigen-associated genes to provide a comprehensive profile in a single test, excluding unrelated gene targets. An overlapping probe panel was designed for the coding regions of 64 genes and loci involved in gene expression. Sequencing was performed on 34 RBC and 17 PLT/neutrophil reference samples. Variant call outputs were analyzed using software to predict star allele diplotypes. Results were compared with serology and previous sequence genotyping data. Average coverage exceeded 250×, with more than 94% of targets at Q30 quality or greater. Increased coverage revealed a variant in the Scianna system that was previously undetected. The software correctly predicted allele diplotypes for 99.5% of RBC blood groups tested and 100% of PLT and HNA antigens excepting HNA-2. Optimal throughput was 12 to 14 samples per run. This single-test system demonstrates high coverage and quality, allowing for the detection of previously overlooked variants and increased sample throughput. This system has the potential to integrate genomic testing across laboratories within hematologic reference settings.

Fertility care in the era of commercial direct-to-consumer home DNA kits: issues to ponder.

Recently, we have witnessed a shift in the nature of genetic testing. What was once solely in the hands of the scientific community is now easily accessible to anyone. Commercial companies such as Veritas Genetics, Ancestry, and 23andMe offer cheap direct-to-consumer home DNA kits that are branded as a "health and ancestry service." These tests are gaining in popularity, and it is estimated that since their marketing, over 30 million people worldwide have provided their DNA samples. The implications of this new genetic era are diverse, ranging from the individuals personal health assessment, to family genealogy and ancestry, and the complexity of establishing an enormous population-based genetic database. Unique implications of commercial DNA tests on fertility patients and heath care providers, such as in the case of gamete donation, are important to acknowledge and have implications for reproductive care.

Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test.

IntroductionDNA testing for autosomal recessive disease mutations in many dog breeds is now relatively commonplace. There have, however, been few efforts made to determine changes in the frequency of disease causing mutations as a result of probable selection based on the results of DNA testing. This study makes use of genotype data from both DNA test results reported to the UK Kennel Club and where known from a ‘hereditary status’ (where a definitive genotype may be inferred and ascribed based on known parental genotypes) to do so.ResultsThe results, using all known genotype data, show a general and sizeable decline in disease causing mutation frequency across eight diseases in eight breeds (by between 12–86% in dogs born 2–4 years after publication of the mutation, and by nearly 90% or more in those born 8–10 years after). In contrast, data from test results only, while revealing an almost complete and immediate end to the production of affected individuals, show little general decline in either the derived mutation frequency or the proportion of heterozygote carriers. It appears that the numerical size of the breed is an important determinant on the rate of uptake of a DNA test (as judged by the proportion of a breed born four years after publication of the disease-causing mutation with a known genotype).ConclusionThese results show that dog breeders appear to be incorporating the results of DNA testing into their selection strategies to successfully decrease the frequency of the mutation. It is shown that use of DNA test result data alone does not reveal such trends, possibly as some breeders undertake testing to determine clear stock which can then be used to produce future disease-free generations in the knowledge they are not carrying the disease causing mutation.

Ethical, Legal and Social Issues in Japan on the Determination of Blood Relationship via DNA Testing

DNA paternity testing has recently become more widely available in Japan. The aim of this paper is to examine the issues surrounding (1) the implementing agency, whether the testing is conducted in a commercial direct-to-consumer (DTC) setting or a judicial non-DTC setting, and (2) the implementation conditions and more specifically the legal capacity of the proband (test subject). Literature research in Japanese and English was conducted. Some countries prohibit commercial DNA testing without the consent of the proband or her or his legally authorized representative. But as in some cases, the results of DTC paternity testing have proven to be unreliable. I propose a complete prohibition of DTC DNA paternity testing in Japan. In many cases of paternity testing, the proband is a minor. This has led to debate about whether proxy consent is sufficient for paternity testing or whether additional safeguards (such as a court order) are required. In cases where commercial DNA testing has been conducted and the test results are produced in court as evidence, the court must judge whether or not to admit these results as evidence. Another important issue is whether or not paternity testing should be legally mandated in certain cases. If we come to the conclusion that DNA test results are the only way to conclusively establish a parent-child relationship, then our society may prioritize even more genetic relatedness over other conceptions of a parent-child relationship. This prioritization could adversely affect families created through assisted reproductive technology (ART), especially in situations where children are not aware of their biological parentage. This paper argues for a complete prohibition of DTC DNA paternity testing in Japan, and highlights that broader ethical and legal deliberation on such genetic services is required

Host resistances to Aphanomyces trifolii root rot of subterranean clover: first opportunity to successfully manage this severe pasture disease

Subterranean clover (Trifolium subterraneum) is an important pasture legume in Australia (29 million ha) and elsewhere. However, severe pasture decline occurs in association with several root pathogens, including Aphanomyces trifolii, that has been misidentified for decades as A. euteiches until recently confirmed as A. trifolii. A series of controlled environment experiments was undertaken to identify host resistance to A. trifolii in subterranean clover and to compare virulence and phylogeny of isolates. In experiment 1, Dalkeith, Bacchus Marsh, Riverina and Yarloop were the most resistant of 38 cultivars with a percentage disease index (PDI) ≤10 for both tap and lateral roots. Experiment 2 confirmed resistance of Yarloop, but a change in some relative varietal resistances suggested physiological specialization among A. trifolii isolates. Experiment 3 confirmed extensive variation in virulence and physiological specialization across 23 isolates of A. trifolii, with three distinct clades, two of which were distinct from isolates collected previously. Experiment 4 identified host resistance(s) effective against a mixture of 20 A. trifolii isolates, but the most resistant cultivars (Antas, Uniwager, Leura) still showed significant disease. This is the first study to show physiological specialization in A. trifolii and to identify host resistance. This study defines A. trifolii as a significant but largely unknown contributor to severe root disease of subterranean clover in southern Australia. Finally, development and calibration of a new soil commercial DNA test not only enables field quantification of the disease, but development of appropriate breeding, selection and farm management strategies to reduce its impact.

Inconsistent identification of pit bull-type dogs by shelter staff

Shelter staff and veterinarians routinely make subjective dog breed identification based on appearance, but their accuracy regarding pit bull-type breeds is unknown. The purpose of this study was to measure agreement among shelter staff in assigning pit bull-type breed designations to shelter dogs and to compare breed assignments with DNA breed signatures. In this prospective cross-sectional study, four staff members at each of four different shelters recorded their suspected breed(s) for 30 dogs; there was a total of 16 breed assessors and 120 dogs. The terms American pit bull terrier, American Staffordshire terrier, Staffordshire bull terrier, pit bull, and their mixes were included in the study definition of ‘pit bull-type breeds.’Using visual identification only, the median inter-observer agreements and kappa values in pair-wise comparisons of each of the staff breed assignments for pit bull-type breed vs. not pit bull-type breed ranged from 76% to 83% and from 0.44 to 0.52 (moderate agreement), respectively. Whole blood was submitted to a commercial DNA testing laboratory for breed identification. Whereas DNA breed signatures identified only 25 dogs (21%) as pit bull-type, shelter staff collectively identified 62 (52%) dogs as pit bull-type. Agreement between visual and DNA-based breed assignments varied among individuals, with sensitivity for pit bull-type identification ranging from 33% to 75% and specificity ranging from 52% to 100%. The median kappa value for inter-observer agreement with DNA results at each shelter ranged from 0.1 to 0.48 (poor to moderate). Lack of consistency among shelter staff indicated that visual identification of pit bull-type dogs was unreliable.

Emerging insights into the genetic basis of canine hip dysplasia.

Canine hip dysplasia (CHD) is the most common inherited polygenic orthopedic trait in dogs with the phenotype influenced also by environmental factors. This trait was described in the dog in 1935 and leads to a debilitating secondary hip osteoarthritis. The diagnosis is confirmed radiographically by evaluating signs of degenerative joint disease, incongruence, and/or passive hip joint laxity. There is no ideal medical or surgical treatment so prevention based on controlled breeding is the optimal approach. The definitive CHD diagnosis based on radiographic examination involves the exposure to ionizing radiation under general anesthesia or heavy sedation but the image does not reveal the underlying genetic quality of the dog. Phenotypic expression of CHD is modified by environmental factors and dogs with a normal phenotype can be carriers of some mutations and transmit these genes to their offspring. Programs based on selection of dogs with better individual phenotypes for breeding are effective when strictly applied but remain inferior to the selection of dogs based on estimation of breeding values. Molecular studies for dissecting the genetic basis of CHD are ongoing, but progress has been slow. In the future, the recommended method to improve hip quality in controlled breeding schemes, which will allow higher selection pressure, would be based on the estimation of the genomic breeding value. Since 2012, a commercial DNA test has been available for Labrador Retrievers using a blood sample and provides a probability for development of CHD but we await evidence that this test reduces the incidence or severity of CHD.

Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association.

Although genetics and genomics play an increasingly large role in the practice of medicine, the clinical care of patients suffering from cardiovascular disease or stroke has not been significantly affected. This is despite the tremendous strides being made to understand the genetic basis of both rare and common cardiovascular and stroke disorders through techniques such as genome-wide association studies (GWASs) and next-generation sequencing studies. Much of this knowledge remains to be translated to the clinic and must be subjected to clinical trials to ensure patient safety and a meaningful impact on clinical outcomes. However, even if this knowledge were to be successfully implemented into clinical practice, a potential barrier to widespread adoption is a lack of familiarity with basic concepts of genetics and genomics. Another concern is the possibility of the emergence of a significant gap in clinical care provided by practitioners who are informed about the clinical use of genetics and genomics knowledge and those who are not. Thus, there is a critical need to foster genetics/genomics literacy among all involved in the care of cardiovascular and stroke patients because it can be expected that these topics will transform the way medicine is practiced. The purpose of this document is to serve as a resource for practitioners in cardiovascular and stroke medicine on the application of genetics and genomics to patient care. Although not exhaustive, it contains an overview of the field written specifically to be accessible and relevant to practitioners. It also refers to additional educational materials available in the literature, in textbooks, and on the Internet. (Because this article is intended to be primarily educational in nature, rather than providing a review of the literature, citations are limited to a small number of research articles and reviews of exceptional interest.) It recommends a core knowledge base with …