Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

Grant, Peter J.; Langlois, Sylvie; Lynd, Larry D.; Study, GenCOUNSEL; Austin, Jehannine; Elliott, Alison M.

doi:10.1111/cge.14006

Cited by 28 publications

(28 citation statements)

References 92 publications

(364 reference statements)

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“…High uptake of direct-to-consumer genetic testing demonstrates high general interest; however, products through private ancestry/health companies are neither clinical nor diagnostic. Pricing of private clinical testing at $200–400 US is expensive for most individuals [ 44 , 53 ].…”

Section: Results Of Panel Discussionmentioning

confidence: 99%

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

et al. 2022

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Individuals with proven hereditary cancer syndrome (HCS) such as BRCA1 and BRCA2 have elevated rates of ovarian, breast, and other cancers. If these high-risk people can be identified before a cancer is diagnosed, risk-reducing interventions are highly effective and can be lifesaving. Despite this evidence, the vast majority of Canadians with HCS are unaware of their risk. In response to this unmet opportunity for prevention, the British Columbia Gynecologic Cancer Initiative convened a research summit “Gynecologic Cancer Prevention: Thinking Big, Thinking Differently” in Vancouver, Canada on 26 November 2021. The aim of the conference was to explore how hereditary cancer prevention via population-based genetic testing could decrease morbidity and mortality from gynecologic cancer. The summit invited local, national, and international experts to (1) discuss how genetic testing could be more broadly implemented in a Canadian system, (2) identify key research priorities in this topic and (3) outline the core essential elements required for such a program to be successful. This report summarizes the findings from this research summit, describes the current state of hereditary genetic programs in Canada, and outlines incremental steps that can be taken to improve prevention for high-risk Canadians now while developing an organized population-based hereditary cancer strategy.

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Section: Results Of Panel Discussionmentioning

confidence: 99%

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

et al. 2022

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“…While the cost of genetic testing has decreased over time, there continue to be concerns about direct cost to patients. Evidence shows that while the out-of-pocket cost to patients has decreased and insurance coverage has improved, there are still barriers to testing access ( 81 ). Perceptions of genetic testing vary across cultural boundaries, and access to genetic testing in underserved populations remains a problem.…”

Section: Discussionmentioning

confidence: 99%

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Schuler¹,

Nelson²,

Koziura³

et al. 2022

Journal of Clinical Investigation

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Rare genetic disorders, when considered together, are relatively common. Despite advancements in genetics and genomics technologies as well as increased understanding of genomic function and dysfunction, many genetic diseases continue to be difficult to diagnose. The goal of this Review is to increase the familiarity of genetic testing strategies for non-genetics providers. As genetic testing is increasingly used in primary care, many subspecialty clinics, and various inpatient settings, it is important that non-genetics providers have a fundamental understanding of the strengths and weaknesses of various genetic testing strategies as well as develop an ability to interpret genetic testing results. We provide background on commonly used genetic testing approaches, give examples of phenotypes in which the various genetic testing approaches are used, describe types of genetic and genomic variations, cover challenges in variant identification, provide examples in which next-generation sequencing (NGS) failed to uncover the variant responsible for a disease, and discuss opportunities for continued improvement in the application of NGS clinically. As genetic testing becomes increasingly a part of all areas of medicine, familiarity with genetic testing approaches and result interpretation is vital to decrease the burden of undiagnosed disease.

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“…A 2021 review by Grant et al described that the proportion of patients who declined BC genetic testing due to cost ranged from 13.6–70.4%. 76 In a survey of East Asian patients at high risk of developing BC (ie, personal history of breast/ovarian cancer or a known family member carrier for a BRCA PVs), 71.3% would not have undergone self-financed genetic screening, emphasizing the importance of sponsored cancer genetic testing services. 77 …”

Section: Genetic Riskmentioning

confidence: 99%

Young Women with Breast Cancer in Resource-Limited Settings: What We Know and What We Need to Do Better

Martínez-Cannon¹,

Barragán-Carrillo²,

Villarreal‐Garza³

2021

BCTT

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Young women with breast cancer (YWBC) account for a variable proportion of patients diagnosed with breast cancer around the globe, with a higher prevalence in resource-limited settings than in high-income countries. This group represents a unique population that warrants special attention due to specific biological considerations and age-specific supportive care issues. This review aims to explore existing knowledge regarding YWBC’s needs, particularly in resource-restricted settings. To date, scarce information regarding the care of YWBC in resource-constrained countries is available, with most reports describing suboptimal care in terms of survivorship needs. Health care providers should implement actions to improve endocrine treatment adherence, referrals for fertility counseling and preservation, contraceptive use compliance, timely body image and sexual function interventions, comprehensive genetic risk assessments, and early quality of life and psychosocial health interventions. While high costs act as a barrier for optimal care in resource-limited settings, improving patient education represents a promising and cost-effective solution to improve patient care. Future research on developing tailored educational resources for YWBC in resource-limited settings should be considered a priority.

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Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

Cited by 28 publications

References 92 publications

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Young Women with Breast Cancer in Resource-Limited Settings: What We Know and What We Need to Do Better

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