Direct-to-consumer Testing Research Articles

Public Perspectives on Direct-to-Consumer Testing Oversight.

The FDA published a final rule for Medical Devices; Laboratory Developed Tests in the Federal Register on May 6, 2024, which aims to ensure the safety and effectiveness of laboratory developed tests (LDTs) by amending current regulations. The rule also includes a policy to phase out the FDA's general enforcement discretion approach for LDTs, aligning them with other In Vitro Diagnostic Devices. Notably, direct-to-consumer (DTC) testing is exempt from this policy shift, as the FDA believes this category of tests has already met applicable requirements. This rule was first proposed in the Federal Register on October 3, 2023. The publication of this proposed rule sparked a considerable volume of public reactions during the comment period of the rule-making process, comprising general sentiment, key concerns, and suggestions. This commentary analyzes these concerns, particularly focusing on DTC tests, and offers recommendations, including reassessing the FDA's enforcement discretion for hybrid DTC tests, advocating for clear guidance on clinical oversight, and prioritizing a risk-based enforcement approach. Additionally, enhancing public education about the risks of DTC testing is crucial for safeguarding public health.

Direct-to-consumer testing as consumer initiated testing: compromises to the testing process and opportunities for quality improvement.

Direct-to-consumer testing (DTCT) refers to commercial laboratory tests initiated by laypersons without the involvement of healthcare professionals. As this market grows in size and variety of products, a clear definition of DTCT to ground the conceptualization of their harms and benefits is needed. We describe how three different modalities of DTCT (home self-testing, self-sampled tests, and direct access tests) present caveats to the traditional testing process ('brain-to-brain loop'), and how this might differ between medical vs. non-medical laboratories. We make recommendations for ways to improve quality and reduce errors with respect to DTCT. The potential benefits and harms of DTCT will invariably depend on the context and situation of individual consumers and the types of tests involved. Importantly, implications for both consumers and the healthcare system should be considered, such as the effects on improving health outcomes and reducing unnecessary testing and use of clinical resources. 'Consumer initiation' must be a central defining characteristic of DTCT, to clearly demarcate the key drawbacks as well as opportunities of this type of testing from a laboratory specialists' perspective. The concept of 'consumer initiated testing' should also help define DTCT regulation, and provide a locus of efforts to support consumers as the main decision-makers in the purchasing and conducting of these tests in the absence of clinician gatekeeping.

Direct-to-consumer tests advertised online in Australia and their implications for medical overuse: systematic online review and a typology of clinical utility

ObjectivesThe objective of this study is to map the range and variety of direct-to-consumer (DTC) tests advertised online in Australia and analyse their potential clinical utility and implications for medical...

Genetic testing in survivorship after diagnosis of breast cancer.

129 Background: Support for universal genetic testing after diagnosis of breast cancer is growing because of concerns that more narrowly targeted guidelines fail to identify all patients who could benefit from genetic risk evaluation (GRE). Little is known about use of genetic testing in survivors of breast cancer over time. Methods: Women who were diagnosed with breast cancer in 2014-15 and reported to the SEER registries of Georgia and Southern California completed a baseline survey about 9 months after diagnosis (N=2502) through the iCanCare study. We performed a follow-up survey (FUPs) about 6 years after diagnosis for 2347 survivors of whom 1430 responded (60% response rate). We asked women about their receipt of clinical germline genetic testing and results, communication with relatives about cancer genetic testing, and use of direct-to-consumer testing (DTCt) after diagnosis. We categorized women into indications (yes/no) for GRE based on clinical guidelines published at time of diagnosis (GRE indication baseline) and at the time of the follow-up survey (GRE indication FUPs only). Results: About half of the respondents (44.6%) had indications for GRE over the study period; 28.0% had an indication at baseline; and an additional 16.6% had an indication by time of the follow-up survey (FUPs only). The Table shows patient-reported testing at FUPs by GRE indication category (baseline, FUPs only, no indication). About two thirds of those with a baseline indication for GRE received genetic testing over the study period: 66.5% vs 43.9% with indication at FUPs only vs 35.0% of those with no indication (p<.001). There were no significant race and ethnic differences in receipt of testing across clinical indications (p=.356). Testers with a pathogenic variant result (n=59) were much more likely to have talked to most or all of their close adult relatives about genetic testing than those with a variant of unknown significance (n=48), or a negative finding (n=384): 64.3% vs 35.0% and 37.1%, respectively (p<.001). Overall, there was very little interest in DTCt for cancer risk: 5.0% researched these tests online somewhat to a lot; and only 3.5% got a DTCt. Conclusions: The proportion of patients with indications for GRE after diagnosis of breast cancer markedly increases in survivorship but many patients do not get genetic testing. Lack of survivor interest in DTCt for cancer risk is reassuring that patients are not substituting these tests for clinical testing. These findings support the growing appeal for universal germline genetic testing for patients with breast cancer.[Table: see text]

Association of neighborhood-level sociodemographic factors with Direct-to-Consumer (DTC) distribution of COVID-19 rapid antigen tests in 5 US communities

BackgroundMany interventions for widescale distribution of rapid antigen tests for COVID-19 have utilized online, direct-to-consumer (DTC) ordering systems; however, little is known about the sociodemographic characteristics of home-test users. We aimed to characterize the patterns of online orders for rapid antigen tests and determine geospatial and temporal associations with neighborhood characteristics and community incidence of COVID-19, respectively.MethodsThis observational study analyzed online, DTC orders for rapid antigen test kits from beneficiaries of the Say Yes! Covid Test program from March to November 2021 in five communities: Louisville, Kentucky; Indianapolis, Indiana; Fulton County, Georgia; O’ahu, Hawaii; and Ann Arbor/Ypsilanti, Michigan. Using spatial autoregressive models, we assessed the geospatial associations of test kit distribution with Census block-level education, income, age, population density, and racial distribution and Census tract-level Social Vulnerability Index. Lag association analyses were used to measure the association between online rapid antigen kit orders and community-level COVID-19 incidence.ResultsIn total, 164,402 DTC test kits were ordered during the intervention. Distribution of tests at all sites were significantly geospatially clustered at the block-group level (Moran’s I: p < 0.001); however, education, income, age, population density, race, and social vulnerability index were inconsistently associated with test orders across sites. In Michigan, Georgia, and Kentucky, there were strong associations between same-day COVID-19 incidence and test kit orders (Michigan: r = 0.89, Georgia: r = 0.85, Kentucky: r = 0.75). The incidence of COVID-19 during the current day and the previous 6-days increased current DTC orders by 9.0 (95% CI = 1.7, 16.3), 3.0 (95% CI = 1.3, 4.6), and 6.8 (95% CI = 3.4, 10.2) in Michigan, Georgia, and Kentucky, respectively. There was no same-day or 6-day lagged correlation between test kit orders and COVID-19 incidence in Indiana.ConclusionsOur findings suggest that online ordering is not associated with geospatial clustering based on sociodemographic characteristics. Observed temporal preferences for DTC ordering can guide public health messaging around DTC testing programs.

Direct-to-Consumer Genetic Testing: A Comprehensive Review.

Emerged in the early 2000s, direct-to-consumer (DTC) genetic testing has helped consumers access and understand their genetic information without the involvement of a healthcare provider. Unlike traditional clinical-based testing, in which a healthcare provider is responsible for ordering, testing, interpreting, and communicating the results, DTC testing provides valuable insights directly to individuals about their genetic information. It empowers consumers and their families to be proactive about their health and lifestyle. The online testing format has become increasingly popular due to its accessibility and affordability. However, it raises concerns about the accuracy and reliability of the results, data security and how to ensure privacy for consumers and regulators. A hybrid model combining elements from both DTC and clinical-based genetic testing has surfaced in the market recently. In the US, current health-related DTC genetic tests are not recognized for diagnostic purposes; instead, these tests are intended to provide genetic information that is associated with certain conditions, which may encourage consumers to take the opportunity to discuss the results and their implications with a healthcare provider. This DTC genetic testing review focuses on the fundamental concepts, applications, benefits, limitations, risks, and consumer concerns, as well as the state of the DTC framework compared with the clinical-based and hybrid models. Additionally, the regulatory oversight, data protection, and healthcare professional perspective on DTC genetic testing in the US will be discussed, including current policies and regulations.

Pharmacogenetics and Personalized Medicines

Personalized or precision medicine has been used to describe the right drug to the right person at the right dose at the right time. One important aspect of personalized medicines is the genetic makeup of the individual. Pharmacogenetics investigates the role of individual genes in drug disposition. The use of pharmacogenetics will increase drug efficacy with minimum side effects. Several tables have been published by the FDA that list the pharmacogenetic associations with certain drugs. These tables suggest that certain subgroups of patients with certain genetic variants are likely to have “altered drug metabolism, and in certain cases, differential therapeutic effects, including differences in risks of adverse events” (https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations#about).These tables include: Section 1: Pharmacogenetic associations for which the data support therapeutic management recommendations such as celecoxib and CYP2C9 polymorphisms. Section 2: Pharmacogenetic associations for which the data indicate a potential impact on safety or response such as codeine in CYP2D6 poor metabolizers will result in a lower concentration of the active form morphine. Section 3: Pharmacogenetic associations for which the data demonstrate a potential impact on pharmacokinetic properties only. In this list, the implications of the genotypes have not been well established for example atorvastatin and SLCO1B1 phenotypes may result in a higher systemic concentration of the drug. In the US pharmacogenetic tests are available as direct-to-consumer (DTC) tests. With DTC tests, individuals can send in a saliva sample and get results directly at their homes (Drelles et al 2021). Although the evidence on the effects of such tests and pharmacogenetic counseling is available and mounting in many clinical practices all around the world but is still to be implemented in the clinical practice in Jordan.&#x0D;

Genetic testing into survivorship after diagnosis of breast cancer.

10583 Background: Support for universal genetic testing after diagnosis of breast cancer is growing because of concerns that targeted guidelines fail to identify all patients who could benefit from genetic risk evaluation (GRE). Little is known about use of genetic testing in survivors of breast cancer over time. Methods: Women who were diagnosed with breast cancer in 2014-15 and reported to the SEER registries of Georgia and Los Angeles County completed a baseline survey about 9 months after diagnosis (N=2502). We performed a follow-up survey (FUPs) about 6 years after diagnosis among survivors (N=2347), of whom 1423 responded (60% response rate). We asked women about their receipt of clinical germline genetic testing and results, communication with relatives about cancer genetic testing, and use of direct-to-consumer testing (DTCt) after diagnosis. We categorized women into indications (yes/no) for GRE based on National Comprehensive Cancer Network guidelines at time of diagnosis (GRE indication baseline) and at the time of the follow-up survey (GRE indication FUPs only). Results: We present results for a preliminary sample (N=1272). About half of the respondents (44.6%) had indications for GRE over the study period; 28.0% at baseline; and an additional 16.6% at time of the follow-up survey (FUPs only). The Table below shows patient-reported testing at FUPs by GRE indication category (baseline, FUPs only, no indication). About two thirds of those with a baseline indication for GRE received genetic testing over the observation period: 66.5% vs 43.9% with indication at FUPs only vs 35.0% of those with no indication (p&lt;.001). A substantial proportion of those who reported testing received the test during the survivorship period (1 to 6 years post-diagnosis): approximately one-third of those with baseline indications vs over half of those with GRE indication at FUPs only. Testers with a pathogenic variant result (n=59) were much more likely to have talked to most or all of their first-degree adult relatives about genetic testing than those with a variant of unknown significance (n=40) or a negative finding (n=382): 64.3% vs 35.0% and 37.1%, respectively (p&lt;.001). Overall, there was very little interest in DTCt for cancer risk: 5.0% researched DTCt online somewhat to a lot; and only 3.5% had DTCt. Conclusions: The proportion of patients with indications for GRE after diagnosis of breast cancer markedly increases into survivorship but many patients do not receive genetic testing. Lack of survivor interest in DTCt for cancer risk is reassuring that patients are not substituting DTCt for clinical testing. [Table: see text]

Direct to Consumer Testing (DTCT)

Direct to Consumer Testing (DTCT)

Direct to Consumer Testing (DTCT)

Direct to Consumer Testing (DTCT)

Direct to Consumer Testing (DTCT)

Direct to Consumer Testing (DTCT)

Direct-to-consumer testing- benefits for consumers, people with disease and public health.

Direct-to-consumer (DTC) tests can be defined as any in-vitro diagnostic (IVD) test or, more broadly, any medical test using an IVD or medical device, that is marketed directly to consumers without involvement of a health care provider (HCP). Examples are pregnancy tests, alcohol breath tests, blood pressure measurements (medical device), coagulation tests (INR), self-monitoring of blood glucose, continuous glucose monitoring (medical device), HIV tests, HPV tests, SARS-CoV-2 antigen tests, or genetic tests. DTC tests fulfil various customer needs such as making rapid decisions (e.g. glucose monitoring for insulin dosing, SARS-CoV-2 antigen test, hormone test identifying fertile days, alcohol test), monitoring chronic conditions between consultations (e.g. diabetes, lipidaemia, hypertension), saving time and reducing consultations (e.g. INR, SARS-CoV-2 antigen test, blood pressure monitoring), screening for disease when no symptoms are present (e.g. occult blood, cholesterol, triglycerides, SARS-CoV2 antigen test), or maintaining privacy (e.g. pregnancy test, HIV test, HPV test, certain genetic tests). Further, DTC tests can reduce cost and expand access to care in countries with limited resources and can support healthcare systems in extraordinary circumstances such asapandemic. Valid concerns about DTC testing need to bedescribed, addressed and resolved with the help of authorities and regulators in collaboration with HCP and should not detract from the advantages DTC tests can provide. HCP should play a more prominent role in educating the public through mass media and social media on the proper use of DTC tests and help to pinpoint problem areas.

Adoptees’ views and experiences of direct-to-consumer (DTC) genomic testing: an exploratory interview study from the UK

Direct-to-consumer (DTC) genomic testing for ancestry and health may appeal to adoptees looking to fill gaps in their family information. There are only a handful of published studies on adoptees’ views and experiences of DTC testing and none of these is from the UK. The recent UK House of Commons Science and Technology Committee report (GB Parliament, House of Commons 2021) did not address the gains or challenges for adopted people specifically, although the Committee did consider that robust evidence of opportunities or risks for any user of a DTC testing kit is limited. In this study presented here, semi-structured interviews were conducted with ten UK adult adoptees recruited via social media. Reflexive thematic analysis (Braun and Clarke 2006, 2019) of the interview transcripts identified three main themes: Decisional influencers of longing, uncertainty and normalisation of DNA kit use; Informational drivers to gain clarity but avoid new worrisome information; and talk around Negotiating Visibility to birth family and commercial third parties. A further theme of Meaning Making related to adoptees’ views of testing outcomes as bringing feelings of resolution or discordance. This study identified many challenging deliberations for adoptees in evaluating whether to take a DTC test and what to do when their results were returned. Additionally, adoptees’ consideration of data privacy issues appears hampered by already having shared identifying information about themselves in their wider adoptee search. Further research is encouraged.

Geriatricians' Perspectives on the Multiple Dimensions of Utility of Genetic Testing for Alzheimer's Disease: A Qualitative Study.

Research advancements in Alzheimer's disease (AD) raise opportunities for genetic testing to improve diagnostic and risk assessment. Despite emerging developments, it is unclear how geriatricians perceive the potential clinical and personal utility of genetic testing for their patients. Geriatricians' perspectives are essential to understanding potential ethical, policy, and clinical challenges. In this paper, we report on geriatricians' perspectives on the utility of genetic testing for AD. Semi-structured interviews with California geriatricians within different practices settings to collect and characterize their perspectives on genetic testing for AD. We used an adapted grounded theory approach to analyze recorded and transcribed interviews. We identified geriatricians' (n = 10) perspectives on the clinical and personal utility of testing, alongside their views on clinical care approaches for older adults. Geriatricians perceived minimal clinical utility of genetic testing for AD, though that may change with the availability of disease-modifying therapies. Yet, they recognized the potential personal utility of testing (e.g., assisting with future financial planning). Finally, geriatricians expressed concerns regarding patients' anxiety from learning about genetic status, particularly through direct-to-consumer (DTC) testing. Our data highlight that the decision to order genetic testing requires clinical and ethical considerations, including balancing limited clinical utility with the potential personal utility. Although DTC testing is available, geriatricians perceive that they have an important role in managing the decision to test and interpreting the results. Further research is needed to inform policy and ethical guidelines to support geriatricians' critical role to counsel patients considering clinical and DTC genetic testing.

Precision medicine from a citizen perspective: a survey of public attitudes towards pharmacogenomics in Flanders

BackgroundPersonalized medicine is an emerging field, aiming to improve the safety and efficacy of pharmacotherapy. The field’s implementation in clinical care is steadily increasing. Pharmacogenomics are one example of personalized approaches in the clinic and direct-to-consumer (DTC) pharmacogenomic tests have become publicly available. We aimed to assess public opinion on pharmacogenomic research and testing to foster integration within Belgian health care.MethodsA cross-sectional survey was created and disseminated online, focusing on the citizen perspective. Participants’ willingness to engage in pharmacogenomic research was the primary outcome. In addition, their awareness, understanding, expectations and overall acceptance towards pharmacogenomic testing was investigated.ResultsA total of 156 participants (54.5% aged between 18 and 30 years, 45.5% > 30 years; 73.1% females) completed the survey. Half ever experienced side effects (46.2%) and treatment failure (52.6%). Up to 45.5% (n = 71) were willing to participate in pharmacogenomics research, and the majority (78.8%) were convinced that pharmacogenomic tests could help doctors to prescribe them the right medications. Additionally, 76.3% (n = 118) supported a partial reimbursement of pharmacogenomics tests. A minority (5.1%, n = 8) of participants showed interest in DTC tests, and 15.4% (n = 24) expressed privacy concerns regarding pharmacogenomics testing. Participants preferred their healthcare professionals’ to perform the test and access their data, but refused commercial providers.ConclusionOverall, participants showed a positive attitude towards precision medicine and pharmacogenomics research. Our findings may help guiding future pharmacogenomic implementation initiatives to optimize drug use by using pharmacogenomic information integrated within health care.

Direct-to-Consumer Testing for Routine Purposes.

Direct-to-consumer (DTC) laboratory testing for routine clinical conditions, such as chronic disease monitoring and sexually transmitted infection (STI) screening, is a rapidly growing market sector. While many of the ethical and logistical issues surrounding genomic DTC testing have previously been discussed in the medical literature, there has been less focus on how routine care DTC testing presents its own opportunities to impact healthcare as well as unique challenges that must be addressed. The quality and regulatory landscape of DTC testing is complex. DTC testing laboratories are not all equal, nor are all types of medical testing appropriate for DTC marketing. Within the United States, nonmedical wellness and other DTC tests may not be reviewed by the Food and Drug Administration, and consumers may not understand the distinctions between medical and nonmedical tests. Laboratories providing medical-grade DTC testing are subject to CLIA regulations, but some DTC laboratories may not be transparent about CLIA compliance. State-level regulations as to whether DTC testing is permitted and the degree of oversight for laboratories vary as well, adding to the complexity presented to the DTC consumer.

Community-led risk analysis of direct-to-consumer whole-genome sequencing.

Direct-to-consumer (DTC) genetic testing is cheaper and more accessible than ever before; however, the intention to combine, reuse, and resell this genetic information as powerful data sets is generally hidden from the consumer. This financial gain is creating a competitive DTC market, reducing the price of whole-genome sequencing (WGS) to under 300 USD. Entering this transition from single-nucleotide polymorphism-based DTC testing to WGS DTC testing, individuals looking for access to their whole-genomic information face new privacy and security risks. Differences between WGS and other methods of consumer genetic tests are left unexplored by regulation, leading to the application of legal data anonymization methods on whole-genome data, and questionable consent methods. Large representative genomic data sets are important for research and improve the standard of medicine and personalized care. However, these data can also be used by market players, law enforcement, and governments for surveillance, population analyses, marketing purposes, and discrimination. Here, we present a summary of the state of WGS DTC genetic testing and its current regulation, through a community-based lens to expose dual-use risks in consumer-facing biotechnologies.

Examining the perceived transparency of DTC genetic testing company communication and its impact on consumer trust, attitude and behavioral intentions

PurposeThis study examines perceived transparency of direct-to-consumer (DTC) genetic testing communication and measures its impact on consumers' trust, attitudes, and the intention to recommend the test to others.Design/methodology/approachAn online survey of US–based adults (over 18 years of age) (N = 271) was administered by the online panel company Qualtrics Panels. The sample consisted of participants who have taken a DTC genetic test previously because only existing consumers could provide insight into companies' transparency about the entire genetic testing process (including the communication before, during, and after) as they experienced it. Participants were asked questions that measured intention to recommend DTC genetic tests to others, trust, attitude toward the DTC testing, and perceptions of transparency of the DTC companies' communication.FindingsResults indicated that consumers who perceive DTC genetic testing companies to be transparent in their communication tend to trust the genetic testing process more, have more positive attitudes toward DTC genetic tests, and are more likely to recommend the tests to others.Research limitations/implicationsThis study integrates corporate communication and science communication through the theoretical framework of transparency. It empirically demonstrates that message transparency is key to increasing the publics' trust, attitude and behavioral intentions toward companies that involve sensitive health information or online privacy.Originality/valueThis paper answers previous calls to explore the organizational approach of science communication in the context of the under-examined companies in the science and health sectors, specifically the DTC genetic testing industry.

Direct-to-Consumer Prenatal Testing for Multigenic or Polygenic Disorders: A Position Statement of the American College of Medical Genetics and Genomics (ACMG)

(Abstracted from Genet Med 2021:23:2027–2028) The American College of Medical Genetics and Genomics (ACMG) recently updated its position statement on direct-to-consumer (DTC) prenatal testing for multigenic or polygenic disorders. The ACMG recommends that prenatal testing for these disorders is not ready for use in the clinic and should not be offered as DTC testing.

Over-the-counter and direct-to-consumer testing for Group A streptococcus

Over-the-counter (OTC) and direct-to-consumer (DTC) tests have been gaining popularity due to their potential to provide accurate and quick diagnostic results without any test order from healthcare professionals, while providing patients the opportunity to actively engage in their own health management. Group A streptococcus is a common transmissible pathogen that leads to acute pharyngitis. Accurate and timely diagnosis of Group A streptococcus pharyngitis is critical to urge patients to seek professional healthcare, to support antibiotic stewardship, to reduce disease transmission, and to prevent rare but potentially life-threatening complications such as acute rheumatic fever, rheumatic heart disease, and poststreptococcal glomerulonephritis. This review provides an overview for OTC and DTC testing in general, discusses the clinical utilization of Group A streptococcus testing, analyzes the limitations and challenges of current Group A streptococcus testing methodologies if developed into OTC or DTC tests. Finally, this review provides an outlook for future developments that would further improve healthcare outcomes.