Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct‐to‐consumer genetic testing

Koerner, Cari; Wetzel, Heather; Klass, Andrie; Doyle, L. Austin; Mills, Rachel

doi:10.1002/jgc4.1683

Journal of Genetic Counseling

2023

DOI: 10.1002/jgc4.1683

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Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct‐to‐consumer genetic testing

Cari Koerner

Heather Wetzel²,

Andrie Klass³

et al.

Abstract: Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models

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2024

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Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Trottier,

Green,

Ovadia

et al. 2024

Molec Gen & Gen Med

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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.

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Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Trottier,

Green,

Ovadia

et al. 2024

Molec Gen & Gen Med

View full text Add to dashboard Cite

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Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review

Oyovwi,

Ohwin,

Rotu

et al. 2024

JMIR Bioinform Biotech

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Background Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling are mostly used, which carry a risk of miscarriage. This has led to the need for a noninvasive and innovative approach to detect and prevent chromosomal abnormalities during pregnancy. Objective This review aims to describe and appraise the potential of internet-based abnormal chromosomal preventive measures as a noninvasive approach to detecting and preventing chromosomal abnormalities during pregnancy. Methods A thorough review of existing literature and research on chromosomal abnormalities and noninvasive approaches to prenatal diagnosis and therapy was conducted. Electronic databases such as PubMed, Google Scholar, ScienceDirect, CENTRAL, CINAHL, Embase, OVID MEDLINE, OVID PsycINFO, Scopus, ACM, and IEEE Xplore were searched for relevant studies and articles published in the last 5 years. The keywords used included chromosomal abnormalities, prenatal diagnosis, noninvasive, and internet-based, and diagnosis. Results The review of literature revealed that internet-based abnormal chromosomal diagnosis is a potential noninvasive approach to detecting and preventing chromosomal abnormalities during pregnancy. This innovative approach involves the use of advanced technology, including high-resolution ultrasound, cell-free DNA testing, and bioinformatics, to analyze fetal DNA from maternal blood samples. It allows early detection of chromosomal abnormalities, enabling timely interventions and treatment to prevent adverse outcomes. Furthermore, with the advancement of technology, internet-based abnormal chromosomal diagnosis has emerged as a safe alternative with benefits including its cost-effectiveness, increased accessibility and convenience, potential for earlier detection and intervention, and ethical considerations. Conclusions Internet-based abnormal chromosomal diagnosis has the potential to revolutionize prenatal care by offering a safe and noninvasive alternative to invasive procedures. It has the potential to improve the detection of chromosomal abnormalities, leading to better pregnancy outcomes and reduced risk of miscarriage. Further research and development in this field is needed to make this approach more accessible and affordable for pregnant women.

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Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct‐to‐consumer genetic testing

Cited by 2 publications

References 42 publications

Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review

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