Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results

Artin, Michael G.; Stiles, Deborah F.; Kiryluk, Krzysztof; Chung, Wendy K.

doi:10.7326/m18-2356

Cited by 10 publications

(4 citation statements)

References 10 publications

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“…These findings can be expected as our study was performed in an area where consumer-initiated genetic testing had just become reported by studies that surveyed practicing physicians (Bernhardt et al, 2012;Powell et al, 2012). These findings were consistent with et al, 2018), and when to refer patients to clinical geneticists (Artin et al, 2019;Brothers & Knapp, 2018). Also, physicians should be informed that they should respond to patients respectfully and not ignore their use of consumer-initiated genetic tests, as this could jeopardize the provider-patient relationship (Artin et al, 2019) et al, 2020).…”

Section: Discussionsupporting

confidence: 91%

“…These findings were consistent with et al, 2018), and when to refer patients to clinical geneticists (Artin et al, 2019;Brothers & Knapp, 2018). Also, physicians should be informed that they should respond to patients respectfully and not ignore their use of consumer-initiated genetic tests, as this could jeopardize the provider-patient relationship (Artin et al, 2019) et al, 2020).…”

Section: Discussionsupporting

confidence: 79%

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Physician awareness, preparedness, and opinions toward consumer‐initiated genetic testing in Thailand: Views from a changing landscape

Kittikoon

Pithukpakorn

Pramyothin

2021

Journal of Genetic Counseling

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Consumer-initiated genetic tests have captured public interest in recent years, including in low-to-middle-income countries (LMICs) such as Thailand. Due to limited resources and personnel, physicians will most likely bear the burden of increasing service needs from the public as consumer-initiated genetic tests become popularized.The primary objective of this study was to describe (a) awareness, (b) preparedness to provide counseling about the consumer-initiated genetic test, and (c) opinions on the usefulness of consumer-initiated genetic tests among physicians at an academic hospital in Bangkok, Thailand. The secondary objective was to describe factors that were associated with the awareness, preparedness, and opinion of the participants. Paper questionnaires were sent out to participants which included internal medicine residents, fellows, and faculty staff members. The questionnaires assessed awareness, preparedness to discuss consumer-initiated genetic test results, and opinion on the usefulness of consumer-initiated genetic tests and included both closed-and openended questions. Responses were anonymous. Among 308 participants, there were 223 (72.4%) residents, 14 (4.5%) fellows, and 71 (23.1%) staff members. Only 15% of participants were aware of consumer-initiated genetic tests, mostly from the internet, and only 7% were prepared to provide counseling regarding consumer-initiated genetic tests. However, 60% agreed that consumer-initiated genetic tests may be clinically useful. Many participants, including trainees, expressed concerns about the interpretation of consumer-initiated genetic test results, application into clinical practice, appropriate counseling, and patient referral to geneticists. Multivariate logistic regression revealed that years of work experience was independently associated with awareness of consumer-initiated genetic tests, while male gender and less work experience were independently associated with favorable opinion toward the usefulness of consumer-initiated genetic tests. Our results pointed to an urgent need for genetic counselors in Thailand. Also, physicians, particularly trainees, need appropriate training to prepare them for a rapidly evolving environment where consumerinitiated genetic tests become commonplace.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 79%

Physician awareness, preparedness, and opinions toward consumer‐initiated genetic testing in Thailand: Views from a changing landscape

Kittikoon

Pithukpakorn

Pramyothin

2021

Journal of Genetic Counseling

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“…17 The test, therefore, is unlikely to be useful to individuals from other ethnic backgrounds. 19,20 As 23andMe acknowledges, its BRCA screen is not comprehensive and does not rule out the possibility that an individual carries one of the many BRCA1/BRCA2 mutations not covered by its report. 21 In January 2019, 23andMe received FDA clearance to expand its cancer susceptibility testing to report on two MUTYH genetic mutations that are implicated in MUTYHassociated polyposis, an autosomal recessive hereditary colorectal cancer syndrome.…”

Section: Context Key Objectivementioning

confidence: 99%

Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility

Kilbride

Bradbury

2020

JCO Precision Oncology

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PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.

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“…Selvtesting av barn er et stort, internasjonalt marked som satser på at foreldre vil det beste for sine barn Oppfølging av genetiske selvtester innenfor det offentlige helsevesenet byr på faglige, etiske og økonomiske utfordringer. Fra flere land som tillater testene, foreligger veiledninger til leger om hvordan de skal forholde seg til denne pasientgruppen (3,5,6). Den britiske allmennlegeforeningen anbefaler sammen sine medlemmer å se bort fra resultater fra genetiske selvtester, og ber om at henvisning til genetisk undersøkelse innenfor det offentlige helsevesenet gjøres på basis av familieanamnese og klinisk undersøkelse alene (7,8).…”

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Lukket dør til åpen fremtid

Ørstavik¹

2020

Tidsskriftet

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Ragnhild Ørstavik er assisterende sjefredaktør i Tidsskriftet. Hun er dr.med. og har en bistilling som seniorforsker ved Folkehelseinstituttet. Genetiske selvtester kan gi informasjon om slektskap, egenskaper og risiko for fremtidig sykdom. Regjeringen vil ikke beskytte barns rett til å velge bort denne kunnskapen. Foto: Einar Nilsen Januar har noe magisk ved seg: en ny begynnelse. Det blir vår i år også, og flaggheising, fellesferie og jul. Resten vet vi litt om, men mye er usikkert. Omtrent som livet.

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Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results

Cited by 10 publications

References 10 publications

Physician awareness, preparedness, and opinions toward consumer‐initiated genetic testing in Thailand: Views from a changing landscape

Physician awareness, preparedness, and opinions toward consumer‐initiated genetic testing in Thailand: Views from a changing landscape

Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility

Lukket dør til åpen fremtid

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