As genetics becomes increasingly integrated into all areas of health care and the use of complex genetic tests continues to grow, the clinical genetics workforce will likely face greatly increased demand for its services. To inform strategic planning by health-care systems to prepare to meet this future demand, we performed a scoping review of the genetics workforce in high-income countries, summarizing all available evidence on its composition and capacity published between 2010 and 2019. Five databases (MEDLINE, Embase, PAIS, CINAHL, and Web of Science) and gray literature sources were searched, resulting in 162 unique studies being included in the review. The evidence presented includes the composition and size of the workforce, the scope of practice for genetics and nongenetics specialists, the time required to perform genetics-related tasks, case loads of genetics providers, and opportunities to increase efficiency and capacity. Our results indicate that there is currently a shortage of genetics providers and that there is a lack of consensus about the appropriate boundaries between the scopes of practice for genetics and nongenetics providers. Moreover, the results point to strategies that may be used to increase productivity and efficiency, including alternative service delivery models, streamlining processes, and the automation of tasks.
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Phillips KA, Deverka PA, Hooker GW, Douglas MP. Genetic test availability and spending: where are we now? Where are we going? Health Aff. 2018;37:710–716.
De Sa J, et al. Growth of molecular diagnostics and genetic testing in the USA, 2008-2011: analysis and implications. Per Med. 2013;10:785–792.
DaVanzo J, Heath S, Pick A, Dobson A. Improving Medicare beneficiaries’ access to genetic counseling. 2013. https://www.abgc.net/abgc/media/documents/dobson-davanzo-report-to-nsgc_final-report-9-6-16.pdf. Accessed 21 March 2019.
Wetterstrand K. DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP). 2018. http://www.genome.gov/sequencingcostsdata. Accessed 21 March 2019.
Retterer K, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696–704.
Cooksey JA, Forte G, Benkendorf J, Blitzer MG. The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists. Genet Med. 2005;7:439–443.
Stoll K, Kubendran S, Cohen SA. The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine. Am J Med Genet C. 2018;178:24–37.
Hoskovec JM, et al. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns. 2018;27:16–20.
Elliott AM, Friedman JM. The importance of genetic counselling in genome-wide sequencing. Nat Rev Genet. 2018;19:735–736.
Bupp CP, Demmer LA, Saul RA. Surveying the current landscape of clinical genetics residency training. Genet Med. 2015;17:386–390.
Abacan MA, et al. The global state of the genetic counseling profession. Eur J Hum Genet. 2019;27:183–197.
Biesecker BB. Genetic counselors as social and behavioral scientists in the era of precision medicine. Am J Med Genet C. 2018;178:10–14.
Scheuner MT, Sieverding P, Shekelle PG. Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA. 2008;299:1320–1334.
Unim B, et al. Identification of delivery models for the provision of predictive genetic testing in Europe: protocol for a multicentre qualitative study and a systematic review of the literature. Front Public Health. 2017;5:223.
Ingvoldstad C, et al. Components of genetic counsellor education: a systematic review of the peer-reviewed literature. J Community Genet. 2016;7:107–118.
Skirton H, Cordier C, Ingvoldstad C, Taris N, Benjamin C. The role of the genetic counsellor: a systematic review of research evidence. Eur J Hum Genet. 2015;23:452–458.
Arksey H, O’Malley L. Scoping studies: towards a methodological framework. Int J Soc Res Methodol Theory Pract. 2005;8:19–32.
Peters MDJ, Godfrey C, McInerney P, Baldini Soares C, Khalil H, Parker D. Chapter 11: Scoping reviews. In: Aromataris E, Munn Z (editors). Joanna Briggs Institute reviewer’s manual, JBI; 2017.
Tricco AC, et al. PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation. Ann Intern Med. 2018;169:467–473.
Canadian Agency for Drugs and Technologies in Health. Grey matters: a practical tool for searching health-related grey literature. http://cadth.ca/resources/finding-evidence/grey-matters. Accessed 2 August 2018.
The World Bank. World Bank open data. https://data.worldbank.org/. Accessed 2 August 2018.
Margarit SB, Alvarado M, Alvarez K, Lay-son G. Medical genetics and genetic counseling in Chile. J Genet Couns. 2013;22:869–874.
Queensland Health. Statewide genetic health Queensland service plan 2017-2022. 2017. https://metronorth.health.qld.gov.au/rbwh/wp-content/uploads/sites/2/2019/08/ghq-service-plan-2017-22.pdf. Accessed 21 March 2019.
Dobson A, El-Gamil A, Pal S, Heath S, Davanzo J. Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study. NSGC/ABGC Workforce Study. 2016.
Christensen J. Utah’s genetic counselor workforce, 2018: a study on the supply and distribution of genetic counselors in Utah. Utah Medical Education Council. 2018. https://umec.utah.gov/wp-content/uploads/Genetic-Counselor-Workforce-Report-2018.pdf. Accessed 21 March 2019.
Benjamin C, et al. A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service. Eur J Hum Genet. 2015;23:996–1003.
Cordier C, Lambert D, Voelckel MAA, Hosterey-Ugander U, Skirton H. A profile of the genetic counsellor and genetic nurse profession in European countries. J Community Genet. 2012;3:19–24.
Nisselle A, et al. Readiness of clinical genetic healthcare professionals to provide genomic medicine: an Australian census. J Genet Couns. 2019;28:367–377.
Villegas C, Haga SB. Access to genetic counselors in the Southern United States. J Pers Med. 2019;9:E33. pii
National Society of Genetic Counselors. Professional status survey 2018: demographics and methodology. https://www.nsgc.org/p/cm/ld/fid=68. Accessed 10 April 2020.
National Society of Genetic Counselors. Professional status survey 2019: demographics and methodology. https://www.nsgc.org/p/cm/ld/fid=68. Accessed 10 April 2020.
Canadian Association of Genetic Counsellors. 2016 Professional status survey summary. https://www.cagc-accg.ca/doc/CAGC%202016%20PSS%20Summary.pdf. Accessed 10 April 2020.
Pan V, Yashar BM, Pothast R, Wicklund C. Expanding the genetic counseling workforce: program directors’ views on increasing the size of genetic counseling graduate programs. Genet Med. 2016;18:842–849.
Accreditation Council for Genetic Counseling. Annual accreditation report. 2018. https://www.gceducation.org/wp-content/uploads/2018/12/ACGC-17-18-AccredReport_FINAL.pdf. Accessed 21 March 2019.
Nisselle A, Macciocca I, McKenzie F. Professional status survey of genetic counsellors and clinical geneticists. Australian Genomics Health Alliance. 2018. https://www.australiangenomics.org.au/reports/professional-status-survey-of-genetic-counsellors-and-clinical-geneticists/. Accessed 21 March 2019.
Shugar AL, Quercia N, Trevors C, Rabideau MM, Ahmed S. Risk for patient harm in Canadian genetic counseling practice: it’s time to consider regulation. J Genet Couns. 2017;26:93–104.
Skirton H, et al. A study of the practice of individual genetic counsellors and genetic nurses in Europe. J Community Genet. 2013;4:69–75.
Paneque M. et al.The perceived impact of the European registration system for genetic counsellors and nurses. Eur J Hum Genet. 2017;25:1075–1077.
Barlow-Stewart K, Dunlop K, Fleischer R, Shalhoub C, Williams R. The NSW genetic counselling workforce. Sax Insitute for the NSW Institute of Health. 2015. https://www.saxinstitute.org.au/wp-content/uploads/The-NSW-Genetic-Counselling-Workforce_June2016.pdf. Accessed 21 March 2019.
Mendes Á, Sousa L, Paneque M. From constraints to opportunities? Provision of psychosocial support in Portuguese oncogenetic counseling services. J Genet Couns. 2013;22:771–783.
Cichon M, Feldman GL. Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents. Genet Med. 2014;16:413–418.
British Columbia Medical Association. Doctors today and tomorrow. Planning British Columbia’s physician workforce. 2011. https://www.doctorsofbc.ca/sites/default/files/physicianworkforce_paper_web.pdf Accessed 10 April 2020.
Robboy S, et al. Pathologist workforce in the United States: I. Development of a predictive model to examine factors influencing supply. Arch Pathol Lab Med. 2013;137:1723–1732.
Federation of the Royal College of Physicians. Focus on physicians. 2018. https://www.rcplondon.ac.uk/projects/census-consultant-physicians-and-higher-specialty-trainees-uk. Accessed 21 March 2019.
Federation of the Royal College of Physicians. Focus on physicians. 2017. https://www.rcplondon.ac.uk/projects/census-consultant-physicians-and-higher-specialty-trainees-uk. Accessed 21 March 2019.
Maiese DR, Keehn A, Lyon M, Flannery D. Current conditions in medical genetics practice. Genet Med. 2018;21:1874–1877.
Liehr T, et al. European registration process for clinical laboratory geneticists in genetic healthcare. Eur J Hum Genet. 2017;25:515–519.
Liehr T, et al. Regarding the rights and duties of clinical laboratory geneticists in genetic healthcare systems; results of a survey in over 50 countries. Eur J Hum Genet. 2019;27:1168–1174.
Canadian Society for Medical Laboratory Science. Newly certified graduate employment survey. 2019. https://csmls.org/csmls/media/documents/resources/CSMLS-New-Graduate-Employment-Survey-2018-Grads-2017-v1-1.pdf. Accessed 21 March 2019.
Garcia E, Fisher PB. American Society for Clinical Pathology’s 2013 wage survey of medical laboratories in the United States. Lab Med. 2013;22:e97–e115.
Garcia E, Fisher PB. The American Society for Clinical Pathology’s 2015 wage survey of medical laboratories in the United States. Am J Clin Pathol. 2017;147:334–356.
Garcia E, Kundu I, Fong K. The American Society for Clinical Pathology’s 2017 wage survey of medical laboratories in the United States. Am J Clin Pathol. 2019;151:29–52.
Association for Clinical Genetic Science. Workforce Development Committee: Genetic Workforce Fig. 1–10. 2015. London, England. https://www.acgs.uk.com/workforce-development/. Accessed 21 March 2019.
Association for Clinical Genetic Science. Workforce Development Committee: Genetic Workforce Fig. 1–13. 2016. https://www.acgs.uk.com/workforce-development/. Accessed 21 March 2019.
Paneque M, Serra-Juhé C, Pestoff R, Cordier C, Silva J. Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe. Eur J Hum Genet. 2017;25:918–923.
Pestoff R, Ingvoldstad C, Skirton H. Genetic counsellors in Sweden: their role and added value in the clinical setting. Eur J Hum Genet. 2016;24:350–355.
Pestoff R, et al. How practical experiences, educational routes and multidisciplinary teams influence genetic counselors’ clinical practice in Europe. Clin Genet. 2018;93:891–898.
Dwarte T, Barlow K, Rosie S, Marcel OS, Terrill B. Role and practice evolution for genetic counseling in the genomic era: the experience of Australian and UK genetics practitioners. J Genet Couns. 2018;28:378–387.
Cordier C, Taris N, Moldovan R, Sobol H, Voelckel MAA. Genetic professionals’ views on genetic counsellors: a French survey. J Community Genet. 2016;7:51–55.
Gschmeidler B, Flatscher-Thoeni M. Ethical and professional challenges of genetic counseling—the case of Austria. J Genet Couns. 2013;22:741–752.
Barr JA, et al. Current practice for genetic counselling by nurses: an integrative review. Int J Nurs Pract. 2018;24:1–9.
Genetics in Nursing & Midwifery Task and Finish Group. Genetics/genomics in nursing and midwifery. UK National Health Service. 2011. https://www.gov.uk/government/publications/genetics-genomics-in-nursing-and-midwifery. Accessed 10 April 2020.
Calzone K, et al. National nursing workforce survey of nursing attitudes, knowledge and practice in genomics. Per Med. 2013;10:1–7.
National Society of Genetic Counselors. Professional status survey 2018: work environment. https://www.nsgc.org/p/cm/ld/fid=68.
Collis S, Gaff C, Wake S, McEwen A, McEwan A. Genetic counsellors and private practice: professional turbulence and common values. J Genet Couns. 2018;27:782–791.
Callard A, Newman W, Payne K. Delivering a pharmacogenetic service: is there a role for genetic counselors? J Genet Couns. 2012;21:527–535.
McWalter KM, Sdano MR, Dave G, Powell KP, Callanan N. Public health genetic counselors: activities, skills, and sources of learning. J Genet Couns. 2015;24:438–451.
Pirzadeh-Miller S, Robinson LS, Read P, Ross TS. Genetic counseling assistants: an integral piece of the evolving genetic counseling service delivery model. J Genet Couns. 2017;26:716–727.
Attard CA, Carmany EP, Trepanier AM. Genetic counselor workflow study: the times are they a-changin’? J Genet Couns. 2019;28:130–140.
Hnatiuk MJ, Noss R, Mitchell AL, Matthews AL. The current state of genetic counseling assistants in the United States. J Genet Couns. 2019;28:962–973.
Zetzsche LH, Kotzer KE, Wain KE. Looking back and moving forward: an historical perspective from laboratory genetic counselors. J Genet Couns. 2014;23:363–370.
Christian S, Lilley M, Hume S, Scott P, Somerville M. Defining the role of laboratory genetic counselor. J Genet Couns. 2012;21:605–611.
Waltman L, et al. Further defining the role of the laboratory genetic counselor. J Genet Couns. 2016;25:786–798.
Suarez CJ, Yu L, Downs N, Costa HA, Stevenson DA. Promoting appropriate genetic testing: the impact of a combined test review and consultative service. Genet Med. 2017;19:1049–1054.
Miller CE, et al. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. Am J Med Genet A. 2014;164A:1094–1101.
Dickerson JA, et al. Improving the value of costly genetic reference laboratory testing with active utilization management. Arch Pathol Lab Med. 2014;138:110–113.
Wakefield E, et al. Reduction of health care costs and improved appropriateness of incoming test orders: the impact of genetic counselor review in an academic genetic testing laboratory. J Genet Couns. 2018;27:1067–1073.
McGowan ML, Fishman JR, Settersten RA, Lambrix MA, Juengst ET. Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing. PLoS One. 2014;9:e108484.
Goldsmith L, Jackson L, Connor AO, Skirton H. Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. J Community Genet. 2013;4:169–180.
Haga SB, et al. Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling. J Gen Intern Med. 2011;26:834–840.
Sukenik-Halevy R, Ludman MD, Ben-Shachar S, Raas-Rothschild A. The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing. Genet Med. 2016;18:372–377.
Lynch FL, et al. Time costs for genetic counseling in preconception carrier screening with genome sequencing. J Genet Couns. 2018;27:823–833.
Heald B, et al. Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices. npj Genomic Med. 2016;1:1–8.
McCuaig JM, et al. Modified panel-based genetic counseling for ovarian cancer susceptibility: a randomized non-inferiority study. Gynecol Oncol. 2019;153:108–115.
Cloutier M, et al. Group genetic counseling: an alternate service delivery model in a high risk prenatal screening population. Prenat Diagn. 2017;37:1112–1119.
Otten E, Birnie E, Ranchor AV, van Langen IM. Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis. Eur J Hum Genet.2016;24:1255–1261.
Vadaaparampil S, Scherr C, Cragun D, Malo T, Pal T. Pretest genetic counseling services for hereditary breast and ovarian cancer delivered by nongenetics professionals in the state of Florida. Clin Genet. 2015;87:473–477.
Trepanier AM, Allain DC. Models of service delivery for cancer genetic risk assessment and counseling. J Genet Couns. 2014;23:239–253.
Heald B, Gustafson S, Mester J, Arscott P. A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model. J Natl Compr Cancer Netw. 2013;11:1076–1081.
Cohen SA, McIlvried DE. Impact of computer-assisted data collection, evaluation and management on the cancer genetic counselor’s time providing patient care. Fam Cancer. 2011;10:381–389.
Haga SB, et al. Primary care providers’ use of pharmacist support for delivery of pharmacogenetic testing. Pharmacogenomics. 2017;18:359–367.
Kentwell M, et al. Mainstreaming cancer genetics: a model integrating germline BRCA testing into routine ovarian cancer clinics. Gynecol Oncol. 2017;145:130–136.
Miyake H, et al. Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan. J Hum Genet. 2016;61:879–884.
Colicchia L, et al. Patient–health care provider conversations about prenatal genetic screening: recommendation or personal choice. Obstet Gynecol. 2017;127:1145–1152.
National Society of Genetic Counselors. Professional status survey 2018: service delivery and access to care. https://www.nsgc.org/p/cm/ld/fid=68.
Arora S, Haverfield E, Richard G, Haga SB, Mills R. Clinical and counseling experiences of early adopters of whole exome sequencing. J Genet Couns. 2016;25:337–343.
Nishiyama M, Sawai H, Kosugi S. The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory. J Genet Couns. 2013;22:795–804.
Douma KFL, et al. Health professionals’ evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer. Fam Cancer. 2015;14:265–272.
Williams JL, Faucett WA, Smith-Packard B, Wagner M, Williams MS. An assessment of time involved in pretest case review and counseling for a whole genome sequencing clinical research program. J Genet Couns. 2014;23:516–521.
National Society of Genetic Counselors and Canadian Association of Genetic Counsellors. Professional status survey 2018: Canada. https://www.nsgc.org/p/cm/ld/fid=68.
Ahmed S, Hayward J, Ahmed M. Primary care professionals’ perceptions of using a short family history questionnaire. Fam Pract. 2016;33:704–708.
Owens KM, Marvin ML, Gelehrter TD, Iv MTR, Uhlmann WR. Clinical use of the Surgeon General’s “My Family Health Portrait” (MFHP) tool: opinions of future health care providers. J Genet Couns. 2011;20:510–525.
Wood ME, et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol. 2014;32:824–829.
Nippert I, et al. Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners’ and breast surgeons’ current practice and preferred practice responsibilities. J Community Genet. 2014;5:69–79.
Sperber NR, et al. Barriers and facilitators to adoption of genomic services for colorectal care within the Veterans Health Administration. J Pers Med. 2016;6:1–11.
Bell RA, et al. Impact of a randomized controlled educational trial to improve physician practice behaviors around screening for inherited breast cancer. J Gen Intern Med. 2015;30:334–341.
Zazove P, Plegue MA, Uhlmann WR. Prompting primary care providers about increased patient risk as a result of family history: does it work? J Am Board Fam Med. 2015;28:334–342.
Roter DL, et al. Effects of online genetics education on physician assistant interviewing skills. J Am Acad Physician Assist. 2010;25:36–48.
Paneque M, et al. A systematic review of interventions to provide genetics education for primary care. BMC Fam Pract. 2016;17:89.
Bensend TA, Veach PMC, Niendorf KB. What’s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by nongenetics professionals. J Genet Couns. 2014;23:48–63.
Pet DB, et al. Physicians’ perspectives on receiving unsolicited genomic results. Genet Med. 2019;21:311–318.
Christensen K, et al. Are physicians prepared for whole genome sequencing? A qualitative analysis. Clin Genet. 2017;89:228–234.
Vassy JL, et al. The impact of whole genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann Intern Med. 2018;167:159–169.
Laforest F, Kirkegaard P, Mann B, Edwards A. Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes. Br J Gen Pract. 2019;69:e97–e105.
Harris BU, Miyake CY, Motonaga KS, Dubin AM. Diagnosis and management of pediatric Brugada syndrome: a survey of pediatric electrophysiologists. Pacing Clin Electrophysiol. 2014;37:638–642.
Domingues-Carral J, et al. Genetic testing among Spanish pediatric neurologists: knowledge, attitudes and practices. Eur J Med Genet. 2017;60:124–129.
Wolfe K, et al. Genetic testing in intellectual disability psychiatry: opinions and practices of UK child and intellectual disability psychiatrists. J Appl Res Intellect Disabil. 2018;31:273–284.
Jacher JE, Martin LJ, Chung WK, Loyd JE, Nichols WC. Pulmonary arterial hypertension: specialists’ knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA. Pulm Circ. 2017;7:372–383.
Shagalov DR, Ferzli GM, Wildman T, Glick SA. Genetic testing in dermatology: a survey analyzing obstacles to appropriate care. Pediatr Dermatol. 2017;34:33–38.
Salm M, et al. Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training. J Genet Couns. 2014;23:156–163.
Morrow A, et al. Referral of patients for pre-implantation genetic diagnosis: a survey of obstetricians. Aust N Z J Obstet Gynaecol. 2016;56:585–590.
Leach E, et al. How do physicians decide to refer their patients for psychiatric genetic counseling? A qualitative study of physicians’ practice. J Genet Couns. 2017;25:1235–1242.
Tan YY, Fitzgerald LJ. Barriers and motivators for referral of patients with suspected Lynch syndrome to cancer genetic services: a qualitative study. J Pers Med. 2014;4:20–34.
Houwink EJF, Muijtjens AMM, van Teeffelen SR, et al. Effect of comprehensive oncogenetics training interventions for general practitioners, evaluated at multiple performance levels. PLoS One. 2015;10:1–13.
Swanson CL, et al. Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis. Gynecol Oncol. 2018;149:121–126.
Douma KFL, Smets EMA, Allain DC. Non-genetic health professionals’ attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer. Fam Cancer. 2016;15:341–350.
Musci TJ, et al. Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenat Diagn. 2013;33:424–428.
Amara N, et al. The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes. Fam Cancer. 2016;15:1–17.
Farrell RM, Agatisa PK, Mercer MB, Mitchum AG, Coleridge MB. The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians. Prenat Diagn. 2016;36:499–506.
Benn P, et al. Obstetricians and gynecologists’ practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenat Diagn. 2014;34:145–152.
Beitsch PD, Whitworth PW. Can breast surgeons provide breast cancer genetic testing? An American Society of Breast Surgeons survey. Ann Surg Oncol. 2014;21:4104–4108.
Sussner KM, Jandorf L, Valdimarsdottir HB, Prevention C, City NY. Educational needs about cancer family history and genetic counseling for cancer risk among frontline healthcare clinicians in New York City. Genet Med. 2015;13:785–793.
Choi MC, et al. Practice patterns of hereditary ovarian cancer management in Korea. Int J Gynecol Cancer. 2017;27:895–899.
Tanabe N, Shikama A, Bando H. A survey of the practice patterns of gynecologic oncologists dealing with hereditary cancer patients in Japan. Fam Cancer. 2014;13:489–498.
ACOG Committee on Practice Bulletins. ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217–227.
Burcher S, et al. Oncology health professionals attitudes toward treatment-focused genetic testing for women newly diagnosed with breast cancer. Per Med. 2013;10:431–440.
Wevers MR, et al. Rapid genetic counseling and testing in newly diagnosed breast cancer: patients’ and health professionals’ attitudes, experiences, and evaluation of effects on treatment decision making. J Surg Oncol. 2017;116:1029–1039.
Hallowell N, Stirling SWD, Porteous OYM. Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care. Fam Cancer. 2019;18:293–301.
George A, et al. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Sci Rep. 2016;6:1–8.
Gingras I, et al. The current use and attitudes towards tumor genome sequencing in breast cancer. Sci Rep. 2016;6:1–8.
Bar J, et al. EGFR mutation testing practice in advanced non-small cell lung cancer. Lung. 2014;192:759–763.
Arney J, et al. Utilization of genomic testing in advanced non-small cell lung cancer among oncologists in the Veterans Health Administration. Lung Cancer. 2018;116:25–29.
Gray SW, et al. Medical oncologists’ experiences in using genomic testing for lung and colorectal cancer care. J Oncol Pract. 2017;13:185–196.
Kim S, et al. Physician attitudes about genetic testing for localized prostate cancer: a national survey of radiation oncologists and urologists. Urol Oncol. 2018;36:501.e15–501.e21.
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: non-small cell lung cancer V5. 2017. https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf.
Falcone D, et al. Prenatal health care providers’ Gaucher disease carrier screening practices. Genet Med. 2012;14:844–851.
Gietel-Habets JJG, et al. Professionals’ knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer. Reprod Biomed Online. 2018;36:137–144.
Roston TM, et al. The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study. J Community Genet. 2018;9:257–262.
Jayawardena ADL, Shearer AE, Smith RJH. Sensorineural hearing loss: a changing paradigm for its evaluation. Otolaryngol Head Neck Surg. 2015;153:843–850.
Lux MPM, et al. Time and resources needed to document patients with breast cancer from primary diagnosis to follow-up—results of a single-center study. Geburtshilfe Frauenheilkd. 2014;74:743–751.
Tanaka K, et al. Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan. J Hum Genet. 2013;58:560–563.
Cragun D, et al. Differences in BRCA counseling and testing practices based on ordering provider type. Genet Med. 2015;17:51–57.
Cohen SA, et al. Identification of genetic counseling service delivery models in practice: a report from the NSGC service delivery model task force. J Genet Couns. 2013;22:411–421.
Benusiglio PR, et al. Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling. Fam Cancer. 2017;16:51–56.
Knapke S, Haidle JL, Nagy R, Pirzadeh-Miller S. The current state of cancer genetic counseling access and availability. Genet Med. 2016;18:410–412.
Kubendran S, Sivamurthy S, Schaefer GB. A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team. Genet Med. 2017;19:1260–1267.
Cohen SA, Huziak RC, Gustafson S, Grubs RE. Analysis of advantages, limitations, and barriers of genetic counseling service delivery models. J Genet Couns. 2016;25:1010–1018.
Buchanan AH, et al. Randomized trial of telegenetics vs. in-person cancer genetic counseling: cost, patient satisfaction, and attendance. J Genet Couns. 2015;24:961–970.
Weissman SM, Zellmer K, Gill N, Wham D. Implementing a virtual health telemedicine program in a community setting. J Genet Couns. 2018;27:323–325.
Terry AB, et al. Clinical models of telehealth in genetics: a regional telegenetics landscape. J Genet Couns. 2019;28:673–691.
Zierhut HA, Macfarlane IM, Ahmed Z, Davies J. Genetic counselors’ experiences and interest in telegenetics and remote counseling. J Genet Couns. 2018;27:329–338.
Tan RYC, et al. Using quality improvement methods and time-driven activity-based costing to improve value-based cancer care delivery at a cancer genetics clinic. J Oncol Pract. 2016;12:e320–e331.
Helm BM, et al. The genetic counselor in the pediatric arrhythmia clinic: review and assessment of services. J Genet Couns. 2018;27:558–564.
Senter L, et al. Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care. Gynecol Oncol. 2017;147:110–114.
Deisseroth CA, et al. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2018;7:1585–1593.
Klinkenberg-Ramirez S, et al. Evaluation: a qualitative pilot study of novel information technology infrastructure to communicate genetic variant updates. Appl Clin Inform. 2016;7:461–476.
Lennerz JK, et al. Health care infrastructure for financially sustainable clinical genomics. J Mol Diagn. 2016;18:697–706.
Clark MM, et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019;11:eaat6177.
Stark Z, et al. Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet Med. 2018;20:1554–1563.
Uhlmann WR, Schwalm K, Raymond VM. Development of a streamlined work flow for handling patients’ genetic testing insurance authorizations. J Genet Couns. 2017;26:657–668.
Patel D, Blouch EL, Rodgers-Fouché LH, Emmet MM, Shannon KM. Finding a balance: reconciling the needs of the institution, patient, and genetic counselor for optimal resource utilization. J Genet Couns. 2018;27:1318–1327.
Cohen SA, Nixon DM. A collaborative approach to cancer risk assessment services using genetic counselor extenders in a multi-system community hospital. Breast Cancer Res. Treat. 2016;159:527–534.
Eichmeyer JN, Burnham C, Sproat P, Tivis R, Beck TM. The value of a genetic counselor: improving identification of cancer genetic counseling patients with chart review. J Genet Couns. 2014;23:323–329.
Crellin E, et al. Preparing medical specialists to practice genomic medicine: education an essential part of a broader strategy. Front. Genet. 2019;10:789.
Brierley KL, et al. Adverse events in cancer genetic testing: medical, ethical, legal, and financial implications. Cancer J. 2012;18:303–309.
Bonadies DC, et al. Adverse events in cancer genetic testing: the third case series. Cancer J. 2014;20:246–253.
Farmer MB, et al. Adverse events in genetic testing: the fourth case series. Cancer J. 2019;25:231–236.
Birch P, et al. DECIDE: a decision support tool to facilitate parents’ choices regarding genome-wide sequencing. J Genet Couns. 2016;25:1298–1308.
Forbes Insights. Meet your new genetic counselor. 2019. https://www.forbes.com/sites/insights-intelai/2019/02/11/meet-your-new-genetic-counselor/#4f58ad09667c. Accessed 19 August 2019.
Rashkin MD, et al. Genetic counseling, 2030: an on-demand service tailored to the needs of a price conscious, genetically literate, and busy world. J Genet Couns. 2019;28:456–465.
Athens BA, et al. A systematic review of randomized controlled trials to assess outcomes of genetic counseling. J Genet Couns. 2017;26:902–933.
GenCOUNSEL was funded through the Large Scale Applied Research Project (LSARP) Genome Canada competition with cofunding from the Canadian Institutes of Health Research (CIHR), Genome BC, Genome Quebec, the BC Provincial Health Services Authority, BC Children’s Hospital Foundation and BC Women’s Hospital Foundation. The GenCOUNSEL Study is led by Alison M. Elliott, Jehannine Austin, Bartha Knoppers, and Larry D. Lynd with Project Manager Alivia Dey, and includes the following coinvestigators: Shelin Adam, Nick Bansback, Patricia Birch, Lorne Clarke, Nick Dragojlovic, Jan Friedman, Debby Lambert, Daryl Pullman, Alice Virani, Wyeth Wasserman, and Ma’n Zawati. We thank the Australian Genomics Health Alliance Workforce & Education program who collaborated with the Human Genetics Society of Australasia, Australasian Association of Clinical Geneticists, and Australasian Society of Genetic Counsellors to collect the Australasian census data. We also thank the Canadian Association of Genetic Counsellors and the National Society of Genetic Counselors for allowing us to include their workforce surveys in our review.
The authors declare no conflicts of interest.
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Dragojlovic, N., Borle, K., Kopac, N. et al. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med (2020). https://doi.org/10.1038/s41436-020-0825-2
- clinical genetics
- genetic counselor
- clinical geneticist
- human resources