ArticleJournal of primary care & community health
Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.
Article in Journal of primary care & community health. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- General practitioners' (GPs) experience, attitudes and needs on clinical genetic services: a systematic review.Family medicine and community health · 2022Pooled it
- Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations.European journal of human genetics : EJHG · 2026Article
- Patient Perspectives and Demographic Factors Influencing Non-Participation in a Large Genomics Study.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Article
- Levers and constraints on general practitioners offering and managing reproductive genetic carrier screening in Australian primary care: a rich graphic of the complex context.BMC medical genomics · 2026Article
- Preparedness for working with genomic medicine among Swedish non-genetics physicians - a nation-wide survey study.Journal of community genetics · 2026Article
- Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.American journal of human genetics · 2026Article
- Health-related social needs and referrals for genetic evaluation among young children.Genetics in medicine open · 2026Article
- Assessment of local provider engagement of an in-home collaborative model for remote genetic services.Genetics in medicine open · 2026Article
- Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey.Journal of community genetics · 2025Article
- Opportunities and challenges for paediatricians requesting funded genomic tests for children.European journal of human genetics : EJHG · 2025Article
- Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.European journal of human genetics : EJHG · 2025Article
- Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.Journal of community genetics · 2025Article
- Primary care provider practices, attitudes, and confidence with hereditary cancer risk assessment and testing: A mixed methods study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.Pediatric nephrology (Berlin, Germany) · 2025Article
- A Qualitative Study of Primary Care Physicians' Approaches to Caring for Adult Adopted Patients.Annals of family medicine · 2025Article
- Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.Annals of neurology · 2024Review
- The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare Professionals.Research square · 2024Article
- Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.American journal of human genetics · 2024Review
- Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.Molecular genetics & genomic medicine · 2024Article
- Knowledge, Attitude, and Practice About the Process of Genetic Counselling Among Clinicians.Cureus · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPrimary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics.
methodsA 34-item online survey was distributed to PCPs in the United States (US). PCP demographics, practice characteristics, and referral patterns, motivators, and barriers were analyzed. Six hypothetical clinical scenarios included in the survey also were presented to a cohort of clinical geneticists. We calculated PCPs' rates of ordering genetic tests and of referral to genetics services in the past year. Rates and responses to clinical scenarios were compared based on respondents' personal and practice characteristics.
resultsA total of 95 PCPs and 25 clinical geneticists participated. Among the PCPs, 79% reported referring and 50% reported ordering genetic testing in the last year. PCPs with genetic counselors (GCs) in their clinic referred at significantly higher rates than those without (
conclusionsResponses to clinical scenarios suggest that it is not clear to PCPs when referrals or testing are needed. Collaboration with GCs is one approach to reducing barriers to and improving PCPs' utilization of genetic services. Clear guidelines from clinical geneticists may help facilitate appropriate use of genetics services by PCPs. Additional research is needed to further describe barriers that PCPs face in genetic testing/referrals.
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