Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare.
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ABSTRACT:
SUBMITTER: Loud JT
PROVIDER: S-EPMC2995214 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Publications
Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare.
The journal for nurse practitioners : JNP 20100901 8
Rapidly emerging technologies make it possible for consumers to acquire information that is intended to explain their inherited susceptibility to disease and facilitate tailored healthcare services through direct-to-consumer (DTC) marketing of personal genetic (PG) and personal genomic (PGM) testing. However, the health benefits and risks associated with these technologies are largely unknown. Consumers will turn to their healthcare providers, including nurse practitioners, to interpret test res ...[more]
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Project description:BACKGROUND:Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of healthcare professionals. Here, we evaluate the clinical relevance of pharmacogenetic tests reported by 23andMe in their UK tests. METHODS:The research papers listed under each 23andMe report were evaluated, extracting information on effect size, sample size and ethnicity. A wider literature search was performed to provide a fuller assessment of the pharmacogenetic test and variants were matched to FDA recommendations. Additional evidence from CPIC guidelines, PharmGKB, and Dutch Pharmacogenetics Working Group was reviewed to determine current clinical practice. The value of the tests across ethnic groups was determined, including information on linkage disequilibrium between the tested SNP and causal pharmacogenetic variant, where relevant. RESULTS:23andMe offers 12 pharmacogenetic tests to their UK customers, some of which are in standard clinical practice, and others which are less widely applied. The clinical validity and clinical utility varies extensively between tests. The variants tested are likely to have different degrees of sensitivity due to different risk allele frequencies and linkage disequilibrium patterns across populations. The clinical relevance depends on the ethnicity of the individual and variability of pharmacogenetic markers. Further research is required to determine causal variants and provide more complete assessment of drug response and side effects. CONCLUSION:23andMe reports provide some useful pharmacogenetics information, mirroring clinical tests that are in standard use. Other tests are unspecific, providing limited guidance and may not be useful for patients without professional interpretation. Nevertheless, DTC companies like 23andMe act as a powerful intermediate step to integrate pharmacogenetic testing into clinical practice.
| S-EPMC5477417 | biostudies-literature
Project description:Direct-to-consumer (DTC) genetic testing is a recent commercial endeavor that allows the general public to access personal genomic data. The growing availability of personal genomic data has in turn stimulated the development of non-commercial tools for DTC data analysis. Despite this new wealth of public resources, no systematic research has been carried out to assess these tools for interpretation of DTC data. Here, we provide an initial analysis benchmark in the context of a whole family, using single nucleotide polymorphism (SNP) data. Five blood-related DTC SNP chip data tests were analyzed in conjunction with one whole exome sequence. We report findings related to genomic similarity between individuals, genetic risks and an overall assessment of data quality; thus providing an evaluation of the current potential of public domain analysis tools for personal genomics. We envisage that as the use of personal genome tests spreads to the general population, publicly available tools will have a more prominent role in the interpretation of genomic data in the context of health risks and ancestry.
| S-EPMC3941016 | biostudies-literature
Project description:The increasing prevalence in polygenic diseases, such as obesity, cardiovascular disease, and type 2 diabetes, observed over the past few decades is more likely linked to a rapid transition in lifestyle rather than to changes in the sequence of the nuclear genome. In the new era of precision medicine, nutritional genomics holds the promise to be translated into tailored nutritional strategies to prevent and manage polygenic diseases more effectively. Nutritional genomics aims to prevent, treat, and manage polygenic diseases through targeted therapies formulated from individuals' genetic makeup and dietary intake. Direct-to-consumer genetic testing (DTC-GT) has become commercially available to equip individuals with information on their genetic vulnerability to different diseases. This information may potentially prompt behavioral changes against adverse factors. However, scientific evidence behind the clinical recommendations is a matter of continuous debate, and behavioral modifications after disclosing genetic information remain inconclusive. In this review, we provide an overview of nutritional genomics and related nutritional DTC-GT services and discuss whether available data are sufficient to be translated into clinical recommendations and public health initiatives. Overall, the scientific evidence supporting the dissemination of genomic information for nutrigenomic purposes remains sparse. Therefore, additional knowledge needs to be generated, particularly for polygenic traits.
| S-EPMC5916428 | biostudies-literature
Project description:Although consumers and experts often express concerns regarding the questionable business practices of direct-to-consumer (DTC) genetic testing services (e.g., reselling of consumers' genetic data), the DTC genetic testing market keeps expanding rapidly. We employ retail fairness as our theoretical lens to address this seeming paradox and conduct a discrete choice experiment with 16 attributes to better understand consumers' fairness perceptions of DTC genetic testing business models. Our results suggest that, while consumers perceive privacy-preserving DTC genetic testing services fairer, price is the main driver for fairness perception. We contribute to research on consumer perceptions of DTC genetic testing by investigating consumer preferences of DTC genetic testing business models and respective attributes. Further, this research contributes to knowledge about disruptive business models in healthcare and retail fairness by contextualizing the concept of retail fairness in the DTC genetic testing market. We also demonstrate how to utilize discrete choice experiments to elicit perceived fairness.Supplementary informationThe online version contains supplementary material available at 10.1007/s12525-022-00571-x.
| S-EPMC9294841 | biostudies-literature
Project description:The purpose of this study was to conduct a proof-of-concept study to evaluate remote recruitment and assessment of individuals ("virtual research visits") with Parkinson's disease who have pursued direct-to-consumer genetic testing.Participants in 23andMe's "Parkinson's Research Community" were contacted by 23andMe. Fifty willing participants living in 23 states underwent a remote, standardized assessment including cognitive and motor tests by a neurologist via video conferencing and then completed a survey. Primary outcomes assessed were (a) proportion of participants who completed the remote assessments; (b) level of agreement (using Cohen's kappa coefficient) of patient-reported data with that of a neurologist; and (c) interest in future virtual research visits.The self-reported diagnosis of Parkinson's disease was confirmed in all cases (k?=?1.00). The level of agreement for age of symptom onset (k?=?0.97) and family history (k?=?0.85) was very good but worse for falling (k?=?0.59), tremor (k?=?0.56), light-headedness (k?=?0.31), and urine control (k?=?0.15). Thirty-eight (76%) of the 50 participants completed a post-assessment survey, and 87% of respondents said they would be more or much more willing to participate in future clinical trials if they could do research visits remotely.Remote clinical assessments of individuals with known genotypes were conducted nationally and rapidly from a single site, confirmed self-reported diagnosis, and were received favorably. Direct-to-consumer genetic testing and virtual research visits together may enable characterization of genotype and phenotype for geographically diverse populations.
| S-EPMC5999055 | biostudies-other
Project description:BackgroundConsumer genomic testing (CGT), including direct-to-consumer and consumer-initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT.MethodsA retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies.ResultsAmong respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes.ConclusionProviders counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.
| S-EPMC11322993 | biostudies-literature
Project description:Individuals who undergo multiplex direct-to-consumer (DTC) genomic testing receive genetic risk results for multiple conditions. To date, research has not investigated the influence of individual differences in disease perceptions among consumers on testing outcomes. A total of 2037 participants received DTC genomic testing and completed baseline and follow-up surveys assessing disease perceptions and health behaviors. Participants were asked to indicate their most feared disease of those tested. Perceived seriousness and controllability of the disease via lifestyle or medical intervention were assessed. Participants most frequently reported heart attack (19.1%) and Alzheimer's disease (18.6%) as their most feared disease. Perceived seriousness and control over the feared disease both influenced response to DTC genomic testing. Greater perceived seriousness and diminished perceived control were associated with higher, but not clinically significant levels of anxiety and distress. In some cases these associations were modified by genetic risk. No significant associations were observed for diet, exercise and screening behaviors. Individual differences in disease perceptions influence psychological outcomes following DTC genomic testing. Higher perceived seriousness may make a consumer more psychologically sensitive to test results and greater perceived control may protect against adverse psychological outcomes. Findings may inform development of educational and counseling services.
| S-EPMC4758676 | biostudies-literature
Project description:Health systems and physicians nationwide aspire to consistently and reliably apply genetic and genomic information to guide disease prevention, management, and treatment. However, clinical information, including genetics/genomics data from within and outside of the care delivery system, is expanding rapidly. Between November 2017 and April 2018, we surveyed 1502 Permanente Medical Group primary care and specialist physicians to assess the degree to which direct-to-consumer genetic test results were being presented to physicians and identify genetics educational needs among physicians (response rate 15%). Adjusted logistic regression (according to respondent characteristics) was used to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) comparing responses within groups. Results showed 35% and 12% of respondents reported receiving at least one direct-to-consumer health risk genetic result (DTC-health risk) or direct-to-consumer pharmacogenomic test result (DTC-PGx), respectively, from a patient in the past year. Of those receiving at least one test result, 40% (DTC-health risk) and 39% (DTC-PGx) of physicians reported 1+ referral(s); 78% (DTC-health risk) and 42% (DTC-PGx) of referrals were to clinical genetics. In total, 85% of physicians would spend ?2 h/year on genetics/genomics education.
| S-EPMC6963876 | biostudies-literature
Project description:Objective To identify factors influencing sperm donor willingness to participate in direct-to-consumer genetic testing, comfort with sharing genetically identifiable data in commercial genetic testing databases, and likelihood to donate sperm again. Design Cross-sectional online anonymous survey. Setting Multicenter, 2 large American sperm banks from July 1, 2020 to July10, 2021. Patient(s) Sperm donors from 1980 to 2020. Intervention(s) None. Main outcome measure(s) Associations between donor demographic characteristics, donation history, and attitudes toward direct-to-consumer genetic testing. Result(s) A total of 396 donors completed the survey. Most donations (61.5%) occurred from 2010 to 2020, and 34.3% were nonidentified donations. Nonidentified donors were less comfortable with their genetic data being shared than open-identity donors (25.4% vs. 43.8%) and were less likely than open-identity donors to donate sperm again (43.3% vs. 72.1%). Donors who donated after the inception of direct-to-consumer genetic testing in 2007 were less likely to participate in commercial genetic testing than those who donated before 2007 (25.8% vs. 37.1%). Most donors (87.4%) have disclosed their donation(s) to current partners, but fewer have disclosed them to their families (56.6%) or children (30.5%). Of the donors who had been contacted by donor-conceived persons, 79.5% were identified via direct-to-consumer genetic testing. Overall, 61.1% of donors would donate again regardless of direct-to-consumer genetic testing. Conclusion(s) Direct-to-consumer genetic testing is playing a dynamic role in sperm donor identification, but donors seem willing to donate again. Implication counseling regarding future linkage and contact from donor-conceived persons needs to be standardized for potential donors before donation.
| S-EPMC10028474 | biostudies-literature
Project description:BackgroundClinical genetic testing for inherited predisposition to venous thromboembolism (VTE) is common among patients and their families. However, there is incomplete consensus about which individuals should receive testing, and the relative risks and benefits.MethodsWe assessed outcomes of receiving direct-to-consumer (DTC) results for the two most common genetic risk factors for VTE, factor V Leiden in the F5 gene (FVL) and prothrombin 20210G>A in the F2 gene (PT). Two thousand three hundred fifty-four customers (1244 variant-positive and 1110 variant-negative individuals) of the personal genetics company 23andMe, Inc., who had received results online for F5 and F2 variants, participated in an online survey-based study. Participants responded to questions about perception of VTE risk, discussion of results with healthcare providers (HCPs) and recommendations received, actions taken to control risk, emotional responses to receiving risk results, and perceived value of the information.ResultsMost participants (90% of variant-positive individuals, 99% of variant-negative individuals) had not previously been tested for F5 and/or F2 variants. The majority of variant-positive individuals correctly perceived that they were at higher than average risk for developing VTE. These individuals reported moderate rates of discussing results with HCPs (41%); receiving prevention advice from HCPs (31%), and making behavioral changes to control risk (e.g., exercising more, 30%). A minority (36%) of variant-positive individuals worried more after receiving VTE results. Nevertheless, most participants reported that knowing their risk had been an advantage (78% variant-positive and 58% variant-negative) and were satisfied knowing their genetic probability for VTE (81% variant-positive and 67% variant-negative).ConclusionConsumers reported moderate rates of behavioral change and perceived personal benefit from receiving DTC genetic results for VTE risk.
| S-EPMC7667316 | biostudies-literature