Direct-to-consumer Genetic Testing Research Articles

Demographic differences in the utilization of clinical and direct‐to‐consumer genetic testing

Genetic testing has increased over the last decade due to growth in the number of clinical and direct-to-consumer (DTC) tests. However, there is uncertainty about how increased DTC genetic testing affects disparities. Between November 2017 and February 2018, a nationwide electronic survey on experiences with genetic testing was conducted among adult Kaiser Permanente members. Logistic regression was used to calculate adjusted odds ratios and 95% confidence intervals comparing receipt of clinical and DTC genetic testing between groups by race and ethnicity. Invitations were sent to 57,331 members, and 10,369 surveys were completed. 22% of respondents had received genetic testing (17% DTC and 5% provider-ordered). Non-Hispanic Whites were more likely than other groups to have clinical genetic testing but were similar to Hispanics and non-Hispanic Blacks in rates of DTC genetic testing. Among those who received any health-related genetic test, 10% reported abnormal results. Of these, non-Hispanic Whites were more likely than other racial/ethnic groups to speak to a medical professional about abnormal results. Results suggest that racial/ethnic disparities in the use of clinical genetic services persist. Additional research is needed to identify lessons learned from DTC genetic testing that may increase equity in the use of clinical genetic services.

"Becoming Part of Something Bigger"

Direct to consumer genetic testing (DTCGT) services where users can identify their inherited diseases and traits, find genetic relatives, and learn more about their ethnic heritage continue to grow in popularity. At the same time, one's DNA is one of the most identifiable, immutable forms of personal information, and sharing it carries risks to one's privacy. What motivates individuals to engage in DTCGT, and what are the implications for information privacy at both the individual and societal levels? This study uses qualitative interviews with ten customers of the DTCGT service 23andMe to explore why they engaged in DTCGT, the benefits they received, their expectations of privacy, and perceptions of risk. It also introduces the use of social exchange theory as a theoretical framework for examining the social dimensions of information privacy and personal disclosure. The findings demonstrate that the participants' assumptions of anonymity, as well as their their belief that their contributions to online genetic databases aid the public good, were key motivating factors. The participants were generally unaware of the potential risks to their individual genetic privacy as well as the impact of large scale genetic testing databases on networked, collective privacy. The findings demonstrate that framework of social exchange theory aids in understanding how the form of the relationship affected the participants' decisions to disclose their personal information to 23andMe as well as their perceptions of risk in the DTCGT context.

Citizens’ perspectives on genomic sciences and direct-to-consumer genetic tests: systematic reviews

Abstract Background Past decades have witnessed enormous progress in the field of genetics and genomics, and yet a low level of awareness among general public has been described. Our aim was to explore the general populations’ knowledge, attitudes and behaviors towards genomic sciences, with a focus on direct-to-consumer genetic tests (DTC-GTs). DTC-GTs are genetic tests ordered directly by the public, without the involvement of a healthcare provider. Methods Two systematic reviews were conducted related to citizens’ knowledge, attitudes and behaviours. Firstly, we updated the current literature on DTC-GTs by searching PubMed, Web of Science, Embase, Scopus and Google Scholar. Studies published in English from October 2014 to January 2019, conducted in Europe were included. Secondly, we searched PubMed, Web of Science and Embase to review English and Italian studies on genomic sciences from 2003 to 2019. Results In the systematic review on DTC-GTs, we included six studies from Italy, Greece, Germany, The Netherlands and Switzerland. European citizens had an overall low level of awareness and a very small proportion of them had personal experience with DTC-GTs. More than half of the participants were interested in undergoing a DTC-GT, mainly for knowing the risk predisposition to a common disease such as cancer or cardiovascular disease. Concerns were raised about tests’ validity and utility as well as data privacy. In the systematic review on genomic sciences, 55 studies were included. The data extraction process is still in progress and our preliminary results indicate low levels of awareness on genomics. Conclusions Our findings showed that European citizens have a modest level of awareness and a high interest in DTC-GT. Understanding the citizens’ perspectives toward genomic sciences may contribute to the development of educational programs related to their needs. Key messages European citizens expressed modest levels of awareness and high levels of interest in DTC-GTs, mainly for knowing the risk predisposition to common diseases. European citizens are concerned with the data privacy and DTC-GT’s validity and utility.

Direct-to-consumer genetic testing with third party interpretation: beware of spurious results.

Direct-to-consumer (DTC) genetic tests aim to provide insights into issues as varied as ancestry, nutrition, athletic ability and child talent, and some also report on disease risks. DTC companies tend to present their tests as uniformly beneficial, but the quality of the information they provide can be doubtful. Tests often invite people to step between territories, from the consumer in search of 'fun' information to potential patient, and the boundaries between these roles become even murkier when individuals explore the raw data from their DTC tests using third-party interpretation websites. We discuss two composite cases from U.K. genetics centres where patients used third party interpretation services to analyse raw data from DTC genetic tests. They then presented to NHS clinical services requesting interventions based on the disease-associated variants found, only to find that these variants were not actually present: their 'pathogenic results' were spurious. We highlight the risk of false positives (as well as false negatives) from DTC genetic tests, and discuss whether these cases represent the start of a worrying trend, where publicly funded clinicians and clinical scientists increasingly need to spend time and money investigating genetic results of dubious validity.

5 Years of Steady Progress: DTC Genetic Testing Service MYCODE

Abstract In the United States, companies like 23andme and Ancestry.com have driven the establishment and growth of the direct-to-consumer (DTC) genetic testing market. However, in Japan the DTC genetic testing market is only just getting off the ground. In 2014, DeNA Life Science launched the DTC genetic testing service MYCODE, which predicts disease risk associated with SNPs, based on collaborative research with The Institute of Medical Science at the University of Tokyo. MYCODE leads the industry with its high level of service quality, emphasizing test quality, scientific evidence, providing information to consumers, security, and due consideration to ethics. The social significance of MYCODE is not only the opportunity to inspire consumers to form healthier behavioral habits, but also that this service worked to create a DTC genetic testing market. There is also a mechanism in place for individuals in the MYCODE community to participate voluntarily in research (Community-Derived Science). Going forward, through MYCODE we hope to contribute to the healthy spread and growth of the DTC genetic testing market in Japan.

Direct-to-consumer genetic testing.

Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important task considering the early history of DTC genetic testing in Korea. And the DTC genetic testing performance or method has been rarely reported to the scientific and/or medical community and reliability of DTC genetic testing needs to be assessed. Law enforcement needs to improve these issues. Also principle of transparency needs to be applied.

Direct-to-Consumer Genetic Testing Data Privacy: Key Concerns and Recommendations Based on Consumer Perspectives.

Direct-to-consumer genetic testing (DTC-GT) companies are engaging health consumers in unprecedented ways and leveraging the genetic information they collect to further engage health companies. This has produced controversy about DTC-GT consumer expectations, standards, and perceptions of privacy. In this commentary, we highlight recent events involving DTC-GT companies and controversy about privacy that followed those events and discuss recent studies that have explored DTC-GT consumer concerns about privacy. We discuss DTC-GT company standards of upholding consumer privacy and the general accessibility of DTC-GT company terms of use agreements and privacy policies that are written at reading levels above that of many consumers. We conclude that broader discussions and more research are needed to identify DTC-GT consumer concerns about and expectations of privacy. We anticipate that our recommendations will advance discussions on consumer privacy expectations and protections in an era of increasing engagement in DTC-GT.

Privacy in Direct-to-Consumer Genetic Testing.

Over the past decade, direct-to-consumer (DTC)6 genetic testing has grown from an intellectual curiosity to a mainstream technology. In 2018, the total number of US customers for DTC genetic testing has been predicted to exceed 20 million. There are many benefits to DTC genetic testing, including increased accessibility of testing at rapidly decreasing costs. A new powerful use of DTC genetic testing data is the identification and surveillance of persons of interest. In 2018, a suspect in the Golden State Killer murder cases was identified by use of DTC genetic testing information, 30 years after the last known crime was committed. Since the break in the Golden State Killer cases, >100 law enforcement investigations are now underway using DTC genetic data. Individuals providing DTC genetic data may not be aware their data are being used for law enforcement activity to identify links with distant relatives. There are currently minimal regulations and ethical standards to guide the appropriate use of consumer genetic databases by law enforcement. How have you been involved in DNA testing, privacy, and/or the use of DNA in law enforcement? Michael T. Risher: I have been litigating challenges to laws that require people arrested on suspicion of a felony to provide DNA samples for inclusion in the government's Combined DNA Index System (CODIS) database since 2009, first as a staff attorney with the American Civil Liberties Union of Northern California and now in private practice. I have written and testified before Congress about the privacy and racial-justice implications of the increasing use of criminal DNA databanks and familial searching. Timothy Caulfield: Our team at the Health Law Institute at the University of Alberta has been looking at these issues for decades. This has included work on social issues associated with DTC genetic testing, the collection of samples …

Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

The latest response to consumers’ increased demand for accessible genetic health information is the US Food and Drug Administration (FDA)’s recent approval of 23andMe’s direct-to-consumer (DTC) genetic test for the three common BRCA1 and BRCA2 pathogenic variants found in the Ashkenazi Jewish population.1 23andMe and other DTC genetic testing companies officially report out ancestry, trait, and some health information, while also providing consumers with files of their raw genetic data. Up to 62% of consumers use third-party applications to interpret the raw data and health information not included in companies’ reports.2 Little data exists on the nature and prevalence of clinical follow up of third-party raw genetic data interpretation, nor on the psychosocial impact on the consumer and their families.3 This information is of timely importance as a recent study suggests that 40% of genetic variations within DTC raw data sent for clinical confirmation are false positives.4 This raises many questions about the impact of DTC genetic testing and third-party interpretation tools, including the appropriate use of healthcare resources, clinical utility, provider and patient understanding of limitations, and psychological impact on consumers. In this commentary, we present four case vignettes from cardiovascular genetics clinics to bring awareness to possible harms of DTC raw data interpretation. Future studies investigating the breadth and frequency of cases such as these are required to understand the scope of this harm.

Direct to consumer versus clinical genetic testing.

There are approximately 250 direct to consumer (DTC) genetic testing companies marketing different testing options such as genetic health risk, carrier status, ancestry, wellness, traits, noninvasive prenatal genetic testing, athleticism, and many others. As a result, choosing the most appropriate test may be daunting when compared with a focused genetic test ordered by a clinician. A wealth of information may be discovered and care must be taken by both consumers and clinicians when deciphering test results. This column highlights considerations when proceeding forward with a DTC genetic test.

Abstract P5-09-11: Direct-to-consumer genetic testing as an alternative model for identifying BRCA carriers

Abstract Background: Three BRCA1 and BRCA2 founder variants (185delAG, 5382insC, and 6174delT) are common in the Ashkenazi Jewish population. Our objective was to use data collected by direct-to-consumer (DTC) genetic testing (23andMe, Inc., Mountain View CA) to determine the frequency of these variants in a generally unselected group of genotyped individuals and to characterize the cohort of individuals carrying one of these variants in terms of self-reported ancestry, genetic ancestry, and personal and family history of cancer. Methods: Individuals were genotyped prior to November 2017 on one of four custom Illumina genotyping arrays, which included the three Ashkenazi founder variants. Ashkenazi Jewish genetic ancestry was calculated by an analysis of local ancestry. Self-reported data from customer surveys on ancestry and personal and family history of cancer was used in the analysis. Inclusion criteria were 23andMe customers who were 18 years or older and consented to participate in research. IRB approval was obtained from Ethical & Independent Review Services. Results: More than 80% of individuals consented to participate in online research. 2,853 carriers of at least one Ashkenazi Jewish founder variant were identified out of 1,980,076 eligible participants. 54% (1,539) were males; 46% (1,314) were females; 86% (2,462) were over 30 years of age. 249 (9%) had no detectable Ashkenazi Jewish genetic ancestry. 1,967/2,853 (69%) provided self-reported ancestry information. 415/1,967 (21%) did not self-report Jewish ancestry but of those, 258 (62%) had at least 1% Ashkenazi Jewish genetic ancestry. Individuals with less than 20% Ashkenazi Jewish genetic ancestry were less than 50% likely to report having Jewish ancestry. Self-reported vs. genetic ancestry information No detectable Ashkenazi Jewish genetic ancestry>1% detectable Ashkenazi Jewish genetic ancestryTotalSelf reported Jewish ancestry9 (1%)1,543 (99%)1552Self reported no Jewish ancestry157 (38%)258 (62%)415Total16618011967 1,837 participants provided personal cancer history information and 393 provided first-degree family history information. 1,435/1,837 (78%) reported no personal history of breast, ovarian, pancreatic, or prostate cancer. 44% (172/393) reported no first-degree family history of breast, ovarian, pancreatic, or prostate cancer. Conclusions: This is the first description of a large, unselected cohort of BRCA carriers identified through DTC genetic testing. 21% of carriers in our cohort did not self-report Jewish ancestry despite more than half of those having detectable Ashkenazi Jewish genetic ancestry. Even though personal or family history was only available for a subset, many did not report suggestive histories of breast, ovarian, prostate, or pancreatic cancer. Although there are limitations to the data set, these findings suggest the need for alternative models for identifying carriers of specified BRCA variants who may not otherwise be identified for genetic testing. Additionally, the number of males identified underscores the importance of male carriers in cancer genetic risk assessment. Citation Format: Tennen R, Laskey S, Koelsch B, McIntyre M, Greb A, Kim E, Tung J. Direct-to-consumer genetic testing as an alternative model for identifying BRCA carriers [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P5-09-11.

Direct to Consumer Fitness DNA Testing.

The direct to consumer (DTC)2 genetic testing market was initiated in 2007 with the introduction of 23andMe. Since then, there has been marked expansion and, at the same time, considerable efforts to scrutinize the potential benefits and harms of such testing (1). The various tests are heterogeneous, with output ranging from medical data to ancestry to lifestyle. Along the way, fitness-centered DTC genetic tests have cropped up, encouraging consumers to pay, as we will briefly describe here, high costs for what we feel to be low value information. These tests promise insights about nutrition, healthy aging, weight loss, and athletic aptitude (even for specific sports). They market faux scientific authority, engendering confusion and the potential for harm, no less diminishing consumer confidence in validated, actionable, genetic tests. The genetic testing market is currently divided into 2 main categories with a couple of exceptions that operate in both arenas. Clinical tests require that a physician order each test, are subject to regulatory oversight, and are aimed at diagnosing or screening for mutations related to specific medical conditions. In contrast, DTC tests are purchased without any need for physician involvement. Current surveys identify approximately 40 companies offering DTC fitness genetic tests (2) and several companies that serve as a marketplace for purchasing a variety of such tests interpreted by third parties. Although registries exist to provide some assistance for medical genetics professionals to choose between the approximately 75000 clinical genetic tests available (3), there is no such resource for consumers. DTC genetic test prices range from under $30 to well over $1000. The less expensive tests are generally for individual single nucleotide variants, and marketing by some DTC companies drives sales of multiple tests per customer. The DTC genetic testing market is estimated to total about $100 million in 2017, with …

Usability Testing of Two Mini-Games and One Serious Game to Educate People About Genetics.

The lowering costs of DNA sequencing and the diffusion of numerous Direct to Consumer Genetic Testing (DTC-GT) services have made genetic testing easily available to the general public who can buy them without any medical prescription or consultation. Nevertheless, the knowledge required to understand the provided results and their implications is still scarce in the general public. Starting from these considerations, we developed two mini-games and one serious game to increase people genetic literacy through experiential learning. The three games were tested for usability on a sample of 30 participants, 10 for each game, who were asked to report any positive or negative issue related to the games and to fulfill the Game Experience Questionnaire in order to evaluate their playing experience. Results from the three games show that players experienced moderate levels of immersion and flow, low levels of negative sensations, and a prevalence of positive emotions. In general, these encouraging results suggest that the proposed games are suitable to transmit genetic notions to the general public.

SU33 - A GENOME-WIDE ASSOCIATION STUDY IDENTIFIES A NOVEL LOCUS ASSOCIATED WITH DEPRESSIVE STATE IN THE JAPANESE POPULATION

Background Major Depressive Disorder (MDD) is a common and disabling psychiatric disorder. MDD is a multifactorial disorder with multiple genetic and environmental factors with relatively small effects. To date, only a small number of loci have been identified to be significantly (P Methods To further understand of the genetic basis of MDD, we conducted a Genome-Wide Association Study (GWAS) in East Asia with more than ten thousand participants of Japanese ancestry. Participants completed a self-administered questionnaire on their medical history and health conditions that included the 6-item Kessler screening scale (K6) for depressive state (cut-off point 4/5; 4,071, depressive group [cases]; 6,749, non-depressive group [controls]). The genomic DNA of the participants was extracted from saliva and was genotyped for Single-Nucleotide Polymorphisms (SNPs) using Illumina HumanCore BeadChip (about 300,000 SNPs with add-on 5,000 SNPs). SNPs were excluded if the call rate was Results A genome-wide significant association (P=8.8E-9) was observed for a locus in chromosome 20, upstream of WAP-type four-disulfide core 10B (WFDC10B), a member of the WFDC domain family, which has been reported to play a regulatory role in inflammation. On the other hand, there were no SNPs with genome-wide significant associations with past medical history of MDD (898, diagnosed group [cases]; 9,992, non-diagnosed group [controls]). Discussion This is, to the best of our knowledge, the first large-scale GWAS using data from direct-to-consumer (DTC) genetic tests carried out in a population not of European-ancestry. The present study detected a novel locus significantly associated with depressive state, but further research is necessary to replicate the current findings. This study suggests that DTC genetic tests with self-reported trait data can contribute to revealing genetic basis for MDD.

Estimating the effects of consumer characteristics on the intention to use direct-to-consumer genetic testing

ObjectiveThe purpose of this study was to identify which consumer characteristics influence their intention to use direct-to-consumer genetic testing (DTC-GT). MethodsThis study conducted a survey to obtain data pertaining to consumer characteristics and their intention to use DTC-GT and then analyzed the survey results econometrically. The consumer survey was conducted in August 2016 and included 2400 respondents residing in Korea, aged 20 to 59. This study used a binary probit model to investigate how consumer characteristics affect the intention to use DTC-GT. ResultsRespondents with knowledge of DTC-GT, a higher level of education, greater interest in healthcare management, greater familiarity with new technology, a higher income level, and a younger age exhibited greater intention to use DTC-GT. Marital status and gender were not determinants of intention to use DTC-GT. ConclusionsConsumer characteristics are important factors affecting DTC-GT adoption; however, the effects differ depending on the characteristics.

Patients Armed With Their Own Genetic Data Raise Tough Questions.

With the market for direct-to-consumer genetic testing expanding rapidly, clinicians are playing catch-up.

The dawn of consumer-directed testing.

As the public's interest in genetics and genomics has increased, there has been corresponding and unprecedented growth in direct-to-consumer genetic testing (DTC-GT). Although regulatory concerns have limited true DTC-GT available without a physician order, the paradigm has shifted to a model of consumer-directed genetic testing (CD-GT) in which patients are researching testing options and requesting specific genetic testing from their health-care providers. However, many nongenetics health-care providers do not have the background, education, interest, or time to order and/or interpret typical clinical genetic testing, let alone DTC-GT. The lines between CD-GT, DTC-GT, and traditional clinical genetic testing are also blurring with the same types of tests available in different settings (e.g., carrier screening) and tests merging medical and nonmedical results, increasing the complexity for consumer decision-making and clinician management. The genetics community has the training to work with CD-GT, but there has been a hesitancy to commit to working with these results and questions about what to do when consumers have more complicated asks, like interpretation of raw data. Additionally, at the rate with which CD-GT is growing, there are questions about having sufficient genetics professionals to meet the potential genetic counseling demand. While there are many complex questions and challenges, this market represents a chance for the genetics community to address and unmet need. We will review the history of the CD-GT/DTC-GT market and outline the issues and opportunities our profession is facing.

Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions.

The Internet currently enables unprecedented ease of access for direct-to-consumer (DTC) genetic testing, with saliva collection kits posted directly to consumer homes from anywhere in the world. This poses new challenges for local jurisdictions in regulating genetic testing, traditionally a tightly-regulated industry. Some Internet-based genetic tests have the capacity to cause significant confusion or harm to consumers who are unaware of the risks or potential variability in quality. The emergence of some online products of questionable content, unsupported by adequate scientific evidence, is a cause for concern. Proliferation of such products in the absence of regulation has the potential to damage public trust in accredited and established clinical genetic testing during a critical period of evidence generation for genomics. Here, we explore the challenges arising from the emergence of Internet-based DTC genetic testing. In particular, there are challenges in regulating unaccredited or potentially harmful Internet-based DTC genetic testing products. In Australia, challenges exist for the Therapeutic Goods Administration, which oversees regulation of the genetic testing sector. Concerns and challenges faced in Australia are likely to reflect those of other comparable non-US jurisdictions. Here, we summarize current Australian regulation, highlight concerns, and offer recommendations on how Australia and other comparable jurisdictions might be more proactive in addressing this emerging public health issue.

Direct-to-Consumer Genetic Testing: Helping Patients Make Informed Choices

Using direct-to-consumer genetic testing (DTCGT), individuals can order a genetic test, collect and submit a saliva sample, and obtain results about their genetic risk for a variety of traits and health conditions without involving a healthcare provider. Potential benefits of DTCGT include personal control over genetic information and health management decisions, whereas potential risks include misinterpretation of results, psychosocial distress, and lack of informed consent. Oncology nurses can provide education, support, and advocacy to enable patients to truly understand the positives and negatives associated with DTCGT. .

Factors Associated with Acceptability, Consideration and Intention of Uptake of Direct-To-Consumer Genetic Testing: A Survey Study

Background: With interest in personalised health care growing, so is interest in personal genetic testing. This is now offered direct-to-consumer, thereby referred to as direct-to-consumer genetic testing (DTC-GT). Criticisms have been expressed on whether a truly informed decision to undergo testing is made with regard to these services. In order to provide relevant information to achieve this, knowing the characteristics of the expected user population is helpful. Therefore, the aim of this study is to identify characteristics of individuals who (1) find the concept of DTC-GT acceptable and (2) consider undergoing DTC-GT in the distant or near future. Methods: This cross-sectional study investigated factors associated with acceptability, consideration and intention in the Dutch general population. Studied variables included awareness, principles and how-to knowledge, attitude, innovativeness, and multiple demographic characteristics. Generalised linear models were applied to identify associated variables. Results: Full data was obtained for 836 respondents. Of those, 18.3% found DTC-GT somewhat or totally acceptable, whereas 12.6% considered and 5.5% intended to undergo DTC-GT in the distant or near future. Acceptability was greater with lower principles knowledge, and consideration and intention with lower how-to knowledge. A more positive attitude and greater innovativeness were associated with an increase in all 3 outcomes. Conclusion: Informed decision making may be hampered as individuals with lower how-to knowledge were found to be more interested in pursuing testing. The identified characteristics can be used in development and distribution of public and personalized information, in order to help consumers make a truly informed decision.