Ancestry Testing and the Practice of Genetic Counseling

Kirkpatrick, Brianne; Rashkin, Misha

doi:10.1007/s10897-016-0014-2

Cited by 42 publications

(39 citation statements)

References 55 publications

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“…diet) and family history factors which can modify the genetic risks of diseases to great extent [37]. Similar concerns about the quality of the reported results have been raised recently regarding third-party interpretation services, whose interpretation reports may not be based on the reliable scientific evidence and may not be understandable to consumers [38].…”

Section: Analytic and Clinical Validity Of The Servicesmentioning

confidence: 84%

Current Ethical and Legal Issues in Health-Related Direct-To-Consumer Genetic Testing

2017

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work is also supported by the COST Action IS1303 "Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives" (CHIP ME). None of these funding sources have had any involvement in the preparation of this article.The authors declare no conflict of interest. 2 AbstractA variety of health-related genetic testing is currently advertised directly to consumers. This article provides a timely overview of direct-to-consumer genetic testing (DTC GT) and salient ethical issues, as well as an analysis of the impact of the recently adopted Regulation on In Vitro Diagnostic Medical Devices (IVD) on DTC GT. DTC GT companies currently employ new testing approaches, report on wide spectrum of conditions, and target new groups of consumers. Such activities raise ethical issues including the questionable analytic and clinical validity of tests, the adequacy of informed consent, potentially misleading advertising, testing in children, research uses and commercialization of genomic data. The recently adopted IVD Regulation may limit the offers of predisposition DTC GT in the EU market.Keywords: direct-to-consumer genetic testing, genetic testing, consumer genomics, consumer genetics, informed consent, genetic counselling, IVD regulation 1 Many of the tests discussed herein involve generating the DNA sequence for much if not all of the genome, therefore it could be considered more accurate to use the term genomic. However, for the purposes of this article, we will be using the word 'genetic' referring both to genetic and genomic testing and services. DTC genetic testing and related services2 This article focuses mainly on health-related testing, excluding testing with other main purposes such as ancestry and paternity. However, it is important to note that ancestry test results may reveal health-related information to consumers, given associations between genetic ancestry and disease risks, press coverage of these relations and interest of the consumers in these issues [85]. Furthermore, the web-based interpretation services can provide health-related information on the basic of raw data received in ancestry genetic testing, which is discussed in the following sections of this article. (2015) revealed that the market of health-related DTC GT has grown significantly in the last decade reaching over 100 companies [6]. Considering that these searchers were performed in English, the total number of companies offering DTC GT may be assumed to be even larger.Importantly, not only has the number of companies grown in recent years, but their offer has expanded regarding the scope of the tests, technologies used, and the target audiences of the tests. (almost) all the DNA present in cells, whilst whole exome sequencing provides sequence of all protein coding regions of DNA; in both cases the amount of genetic information obtained is unprecedented. Once sequenced, the exome or genome can then be analysed for specific, defined purpose(s) (e.g. using targeted gene approach where only a subset of genes ...

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Section: Analytic and Clinical Validity Of The Servicesmentioning

confidence: 84%

Current Ethical and Legal Issues in Health-Related Direct-To-Consumer Genetic Testing

2017

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“…As personalized genomic medicine becomes more prevalent, it is important for research paradigms to shift accordingly. Multiple pedigree building resources such as online genealogy repositories, direct‐to‐consumer genetic ancestry testing, and social networking websites now allow patients to easily collect their own family histories and receive sought‐out and incidental genetic findings (Kirkpatrick & Rashkin, ; Lee & Crawley, ; Moray et al, ; Roberts et al, ). Our findings show that patients who are motivated to participate in patient‐driven VUS reclassification activities often achieve their personal goals of resolving uncertainty and increasing knowledge for themselves, their families, and the public.…”

Section: Discussionmentioning

confidence: 99%

“…Motivated patients are interested in obtaining and interpreting their own genetic information, as evidenced by the rapid growth of direct-to-consumer genetic testing, online ancestry networks, pedigree-building software, and third-party variant interpretation tools that make genetic information available and accessible for patients (Kirkpatrick & Rashkin, 2017;Lee & Crawley, 2009;Leighton, Valverde, & Bernhardt, 2012;Moray, Pink, Borry, & Larmuseau, 2017;Nelson & Fullerton, 2018;Roberts et al, 2017;Stewart, Wesselius, Schreurs, Schols, & Zeegers, 2017). Similar to patientdriven research on orphan disease, wherein online patient communities have developed new methodologies, databanks, and sources of public funding for research on rare diseases (Frydman, 2009), patient-driven family studies have the potential to generate data on rare genetic variants more efficiently than researcher or laboratorydriven studies (Eggington et al, 2013).…”

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confidence: 99%

Patient goals, motivations, and attitudes in a patient‐driven variant reclassification study

Tsai

Garrett

Makhnoon

et al. 2018

Journal of Genetic Counseling

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Family studies to reclassify clinically ascertained variants of uncertain significance (VUS) can impact risk assessment, medical management, and psychological outcomes for patients and their families. There are limited avenues for patients and their families to actively participate in VUS reclassification, and access to family studies at most commercial laboratories is restricted by multiple factors. To explore patient attitudes about participation in family studies for VUS reclassification, we conducted semistructured pre‐ and post‐participation telephone interviews with 38 participants in a family‐based VUS reclassification study that utilized a patient‐driven approach for family ascertainment and recruitment. Participants had VUS from multigene panel testing performed at multiple clinical laboratories for cancer or other disease risk. Inductive thematic analysis of transcribed interviews highlighted four major themes: (a) Participants’ study goals were driven by the desire to resolve uncertainty related to the VUS, (b) Participants had mixed reactions to the VUS reclassification outcomes of the study, (c) Personal, public, and familial knowledge increased through study participation and (d) Participants used study participation to actively cope with the uncertainty of a VUS. As personalized genomic medicine becomes more prevalent, clinicians, clinical laboratories, and researchers could consider creating more opportunities for active partnership with patients and families, who are motivated to contribute data to familial VUS studies.

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“…As detailed by Kirkpatrick and Rashkin, ancestry providers are providing access to the raw data files containing the variant calls from the consumer testing. While these files are flagged as intended for research use only by the testing companies, it highlights another growing area of interest for “citizen scientists” who want to dig into their own data with third‐party analysis software (Kirkpatrick & Rashkin, ). More recently, a clinical genetic testing laboratory reported their experience with confirmatory genetic testing of DTC results for 49 patients who had findings in clinically actionable genes (e.g., BRCA1 , BRCA2 , CFTR , and COL3A1 ).…”

Section: The Impact To Datementioning

confidence: 99%

The dawn of consumer‐directed testing

Ramos

Weissman

2018

American J of Med Genetics Pt C

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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.

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Ancestry Testing and the Practice of Genetic Counseling

Cited by 42 publications

References 55 publications

Current Ethical and Legal Issues in Health-Related Direct-To-Consumer Genetic Testing

Current Ethical and Legal Issues in Health-Related Direct-To-Consumer Genetic Testing

Patient goals, motivations, and attitudes in a patient‐driven variant reclassification study

The dawn of consumer‐directed testing

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