Utilization and uptake of clinical genetics services in high-income countries: A scoping review

Dragojlovic, Nick; Kopac, Nicola; Borle, Kennedy; Tandun, Rachel; Salmasi, Shahrzad; Ellis, Ursula; Birch, Patricia; Adam, Shelin; Friedman, Jan M.; Study, GenCOUNSEL; Elliott, Alison M.; Lynd, Larry D.

doi:10.1016/j.healthpol.2021.04.010

Cited by 14 publications

(8 citation statements)

References 136 publications

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“…It is also a limitation that the questions were adapted from a questionnaire about malignant melanoma which, although they were general, may be less suitable for ASD. The data was collected in 2014, but the changes in clinical genetics mainly involve new technical equipment, while clinical genetics services are still underutilized in ASD [ 45 ], making our findings relevant to the current state of ASD clinical genetics.…”

Section: Discussionmentioning

confidence: 99%

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

et al. 2021

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Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families’ preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a ‘right not to know’. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children’s future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a “right not to know”. These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.

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Section: Discussionmentioning

confidence: 99%

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

et al. 2021

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“…Considering this rapidly expanding field, managing the coverage of genetic testing will pose a challenge for payers such as BCAPLM. 2,19,22 This finding also alludes to how funding agencies or payers can act as "gate-keepers" having an impact on uptake and rate of OOP pay. There is support for this view in the literature in that payers can limit access to genetic testing, both at the level of providing coverage for the tests themselves 26,27 as well as coverage for genetic counseling services.…”

Section: Discussionmentioning

confidence: 83%

“…In the coming years, the clinical sequencing market is expected to grow at a compound annual rate of 28% 2 . Significant challenges involving infrastructure, policy and regulation will develop unless these systems evolve to keep pace 19 . Policymakers will likely need to make strategic investments in developing the necessary laboratory, clinical, financial and decision support capacity to permit equitable access to genetic services as the demand continues to increase.…”

Section: Discussionmentioning

confidence: 99%

“…In an arena where cost benefit analyses, cost utility analyses, and “medical necessity” guide funding policy, reductions in test costs may have helped to improve coverage. Considering this rapidly expanding field, managing the coverage of genetic testing will pose a challenge for payers such as BCAPLM 2,19,22 . This finding also alludes to how funding agencies or payers can act as “gate‐keepers” having an impact on uptake and rate of OOP pay.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system

et al. 2023

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When genetic tests are not funded publicly, out-of-pocket (OOP) pay options may be discussed with patients. We evaluated trends in genetic testing and OOP pay for two publicly funded British Columbia clinical programs serving >12 000 patients/year (The Hereditary Cancer Program [HCP] and Provincial Medical Genetics Program [PMGP]) between 2015-2019. Linear and regression models were used to explore the association of OOP pay with patient demographic variables at HCP. An interrupted time series and linear and logistic regression models were used on PMGP data to examine the effect of a change in the funding body. The total number of tests completed through PMGP, and HCP increased by 260% and 320%, respectively.OOP pay increased at HCP by 730%. The mean annual income of patients who paid OOP at HCP was ≥$3500 higher than in the group with funded testing (p < 0.0001).The likelihood of OOP pay increased at PMGP before the funding body change (OR per month: 1.07; 95% CI: 1.04, 1.10); while this likelihood had an immediate 87% drop when the change occurred (OR: 0.13; 95% CI: 0.06, 0.32). Patients with higher incomes are more likely to pay OOP. Financial barriers can create disparities in clinical outcomes. Funding decisions have a significant impact on rate of OOP pay.

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“…Genetic testing and genetic counselling for hereditary cancer syndromes can improve outcomes for patients and their at-risk relatives [ 2 , 3 ] by informing cancer surveillance, prevention, screening, preventative strategies, and treatment as well as reproductive decision-making. A number of factors have driven a rapid increase in the utilization of cancer genetics services over the last fifteen years in Canada and other high-income countries [ 4 , 5 ], including increased awareness among patients and providers and an expansion in the eligibility criteria for genetic assessment, as knowledge about the natural history, specific genetic risk factors and types of cancer associated with hereditary cancer syndromes has grown over time. For example, the number of patients referred to Ontario genetics clinics for cancer indications nearly tripled between 2007 and 2016 [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis

Dragojlovic,

Borle,

Kopac

et al. 2023

Current Oncology

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Over the last decade, utilization of clinical genetics services has grown rapidly, putting increasing pressure on the workforce available to deliver genetic healthcare. To highlight the policy challenges facing Canadian health systems, a needs-based workforce requirements model was developed to determine the number of Canadian patients in 2030 for whom an assessment of hereditary cancer risk would be indicated according to current standards and the numbers of genetic counsellors, clinical geneticists and other physicians with expertise in genetics needed to provide care under a diverse set of scenarios. Our model projects that by 2030, a total of 90 specialist physicians and 326 genetic counsellors (1.7-fold and 1.6-fold increases from 2020, respectively) will be required to provide Canadians with indicated hereditary cancer services if current growth trends and care models remain unchanged. However, if the expansion in eligibility for hereditary cancer assessment accelerates, the need for healthcare providers with expertise in genetics would increase dramatically unless alternative care models are widely adopted. Increasing capacity through service delivery innovation, as well as mainstreaming of cancer genetics care, will be critical to Canadian health systems’ ability to meet this challenge.

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Utilization and uptake of clinical genetics services in high-income countries: A scoping review

Cited by 14 publications

References 136 publications

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis

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