Examining Roles, Challenges, and Opportunities Within the Metabolic Genetics Workforce.

biochemical genetics genetics workforce metabolic genetics multidisciplinary genetics team

Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
01 Oct 2024
Historique:
revised: 11 07 2024
received: 27 03 2024
accepted: 15 09 2024
medline: 1 10 2024
pubmed: 1 10 2024
entrez: 1 10 2024
Statut: aheadofprint

Résumé

The metabolic genetics clinic is a crucial hub for the management of patients with inborn errors of metabolism and other complex genetic conditions. Because more patients are being identified due to the expanded diagnostics, including newborn screening, and living longer with the advent of improved therapies, the multidisciplinary metabolic genetics team has been challenged in growing proportionally to meet patients' needs. Insufficient rates of recruitment to the field and increased levels of attrition have led to concerns about a rising shortage of metabolic genetics health care providers and necessitate creative solutions to grow the workforce. Here, we describe the roles and responsibilities of the multidisciplinary metabolic genetics team and describe opportunities to support patient care and promote clinician work-life balance in a rapidly changing field.

Identifiants

pubmed: 39350662
doi: 10.1002/ajmg.a.63889
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

e63889

Subventions

Organisme : Amgen

Informations de copyright

© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Références

American Academy of Physician Associates. 2018. “What Is a PA? Frequency Asked Questions.” https://www.aapa.org/wp‐content/uploads/2018/06/Frequently_Asked_Questions_4.3_FINAL.pdf.
American Academy of Physician Associates. 2019. “PA Scope of Practice.” https://www.aapa.org/wp‐content/uploads/2017/01/Issue‐brief_Scope‐of‐Practice_0117‐1.pdf.
American Board of Medical Genetics and Genomics. 2017. “Training Options.” http://www.abmgg.org/pages/training_options.shtml.
American Board of Medical Genetics and Genomics. 2023. “Number of ABMGG Certified Specialists in Medical Genetics and Genomics.” http://www.abmgg.org/pdf/Statistics%20for%20Webpage_2023.pdf.
American College of Medical Genetics and Genomics. 2021. “Technical Standards for Clinical Genetics Laboratories.” https://www.acmg.net/ACMG/Medical‐Genetics‐Practice‐Resources/Genetics_Lab_Standards/ACMG/Medical‐Genetics‐Practice‐Resources/Genetics_Lab_Standards.aspx?hkey=0e473683‐3910‐420c‐9efb‐958707c59589.
American College of Medical Genetics and Genomics. 2022. “2021 Salary Survey Report.” https://www.acmg.net/PDFLibrary/2021_ACMG_Salary_Survey_Report.pdf.
American College of Medical Genetics and Genomics. 2024. “Careers in Medical Genetics.” https://www.acmg.net/ACMG/Education/Student/Careers_in_Medical_Genetics.aspx.
Andrews, A., and K. McMinimee. 2024. “Navigating Social Determinants of Health Barriers in the Management of Phenylketonuria.” Molecular Genetitcs and Metabolism Reports 3, no. 39: 101080. https://doi.org/10.1016/j.ymgmr.2024.101080.
Arnold, G. L. 2018. “Inborn Errors of Metabolism in the 21(st) Century: Past to Present.” Annals of Translational Medicine 6, no. 24: 467. https://doi.org/10.21037/atm.2018.11.36.
Arnold, G. L., S. Kanungo, L. Bush, and Wellness Committee of the Society for Inherited Metabolic Disorders. 2021. “Metabolic Providers in Crisis ‐ Burning Out on the Road to Burnout?,” Molecular Genetics and Metabolism 134, no. 4: 285–286. https://doi.org/10.1016/j.ymgme.2021.11.007.
Association of American Medical Colleges. 2022a. “Matriculating Student Questionnaire: 2022 All Schools Summary Report.” https://www.aamc.org/data‐reports/students‐residents/report/matriculating‐student‐questionnaire‐msq.
Association of American Medical Colleges. 2022b. “Medical School Year Two Questionnaire: All Schools Summary Report.” https://www.aamc.org/data‐reports/students‐residents/report/year‐two‐questionnaire‐y2q.
Association of American Medical Colleges. 2023. “Medical School Graduation Questionnaire: 2023 All Schools Summary Report.” https://www.aamc.org/data‐reports/students‐residents/report/graduation‐questionnaire‐gq.
Bernhardt, B. A., C. H. Rushton, J. Carrese, R. E. Pyeritz, K. Kolodner, and G. Geller. 2009. “Distress and Burnout Among Genetic Service Providers.” Genetics in Medicine 11, no. 7: 527–535. https://doi.org/10.1097/GIM.0b013e3181a6a1c2.
Blatt, C. E., S. Klugman, and M. G. Blitzer. 2022. “The Training of Future Clinical Geneticists: Evaluation and Reflection on the ACMG Foundation for Genetic and Genomic Medicine Summer Genetics Scholars Program.” Genetics in Medicine 24, no. 2: 488–491. https://doi.org/10.1016/j.gim.2021.09.013.
Borle, K., N. Kopac, N. Dragojlovic, E. R. Llorian, L. D. Lynd, and C. S. Gen. 2023. “Defining Need Amid Exponential Change: Conceptual Challenges in Workforce Planning for Clinical Genetic Services.” Clinical Therapeutics 45, no. 8: 695–701. https://doi.org/10.1016/j.clinthera.2023.07.005.
Boyer, S. W., L. J. Barclay, and L. C. Burrage. 2015. “Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.” Nutrition in Clinical Practice 30, no. 4: 502–510. https://doi.org/10.1177/0884533615586201.
Bueno, A., and H. A. Bausell. 2022. “The Dietetic Technician's Role in the World of Metabolism.” Molecular Genetics and Metabolism 136, no. Suppl 1: S10–S11.
Bupp, C. P., L. A. Demmer, and R. A. Saul. 2015. “Surveying the Current Landscape of Clinical Genetics Residency Training.” Genetics in Medicine 17, no. 5: 386–390. https://doi.org/10.1038/gim.2014.108.
Bureau of Labor Statistics. 2024. “Occupational Outlook Handbook, Social Workers.” https://www.bls.gov/ooh/community‐and‐social‐service/social‐workers.htm#tab‐1.
Caleshu, C., H. Kim, J. Silver, J. Austin, A. Tibben, and M. Campion. 2022. “Contributors to and Consequences of Burnout Among Clinical Genetic Counselrs in the United States.” Journal of Genetic Counseling 31, no. 1: 269–278. https://doi.org/10.1002/jgc4.1485.
Campion, M., C. Goldgar, R. J. Hopkin, C. A. Prows, and S. Dasgupta. 2019. “Genomic Education for the Next Generation of Health‐Care Providers.” Genetics in Medicine 21, no. 11: 2422–2430. https://doi.org/10.1038/s41436‐019‐0548‐4.
Cichon, M., and G. L. Feldman. 2014. “Opportunities to Improve Recruitment Into Medical Genetics Residency Programs: Survey Results of Program Directors and Medical Genetics Residents.” Genetics in Medicine 16, no. 5: 413–418. https://doi.org/10.1038/gim.2013.161.
Cooksey, J. A., G. Forte, P. A. Flanagan, J. Benkendorf, and M. G. Blitzer. 2006. “The Medical Genetics Workforce: An Analysis of Clinical Geneticist Subgroups.” Genetics in Medicine 8, no. 10: 603–614. https://doi.org/10.1097/01.gim.0000242307.83900.77.
Cunningham, A., F. Rohr, P. Splett, et al. 2023. “Nutrition Management of PKU With Pegvaliase Therapy: Update of the Web‐Based PKU Nutrition Management Guideline Recommendations.” Orphanet Journal of Rare Diseases 18, no. 1: 155. https://doi.org/10.1186/s13023‐023‐02751‐0.
De Castro, M., C. Turner, and B. Kimrse. 2019. “Practical Recommendations for the Transition to Adulthood for the Adolescent With a Genetic Diagnosis. Special Emphasis on Inborn Errors of Metabolism.” Translational Science of Rare Diseases 4: 159–168. https://doi.org/10.3233/TRD‐190042.
Dragojlovic, N., K. Borle, N. Kopac, et al. 2020. “The Composition and Capacity of the Clinical Genetics Workforce in High‐Income Countries: A Scoping Review.” Genetics in Medicine 22, no. 9: 1437–1449. https://doi.org/10.1038/s41436‐020‐0825‐2.
El Mecky, J., L. Johansson, M. Plantinga, et al. 2019. “Reinterpretation, Reclassification, and Its Downstream Effects: Challenges for Clinical Laboratory Geneticists.” BMC Medical Genomics 12, no. 1: 170. https://doi.org/10.1186/s12920‐019‐0612‐6.
Enns, G. M., M. H. Porter, M. Francis‐Sedlak, A. Burdett, and J. Vockley. 2019. “Perspectives on Urea Cycle Disorder Management: Results of a Clinician Survey.” Molecular Genetics and Metabolism 128, no. 1–2: 102–108. https://doi.org/10.1016/j.ymgme.2019.07.009.
Gariani, K., M. Nascimento, A. Superti‐Furga, and C. Tran. 2020. “Clouds Over IMD? Perspectives for Inherited Metabolic Diseases in Adults From a Retrospective Cohort Study in Two Swiss Adult Metabolic Clinics.” Orphanet Journal of Rare Diseases 15, no. 1: 210. https://doi.org/10.1186/s13023‐020‐01471‐z.
Gehlert, S., and T. Browne, eds. 2012. Handbook of Health Social Work. 2nd ed. Hoboken, NJ: John Wiley & Sons, Inc.
Genetic Metabolic Dietitians International. 2020. 2020 GMDI Professional Status Survey.
Glinton, K. E., L. Potocki, and S. U. Dhar. 2022. “An Innovative Medical School Curriculum to Enhance Exposure to Genetics and Genomics: Updates and Outcomes.” Genetics in Medicine 24, no. 3: 722–728. https://doi.org/10.1016/j.gim.2021.10.017.
Gold, J. I., N. B. Gold, A. Strong, et al. 2022. “The Current State of Adult Metabolic Medicine in the United States: Results of a Nationwide Survey.” Genetics in Medicine 24, no. 8: 1722–1731. https://doi.org/10.1016/j.gim.2022.04.018.
Hansen, J., R. Ramachandran, and J. Vockley. 2022. “Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders.” Clinical Therapeutics 44, no. 8: 1045–1056. https://doi.org/10.1016/j.clinthera.2022.07.002.
Hartley, J. N., C. R. Greenberg, and A. A. Mhanni. 2011. “Genetic Counseling in a Busy Pediatric Metabolic Practice.” Journal of Genetic Counseling 20, no. 1: 20–22. https://doi.org/10.1007/s10897‐010‐9324‐y.
Hayek, J. C., M. G. Blitzer, and N. H. Robin. 2024. ““Why Did I Choose Genetics?”: A Survey of Current and Recent Medical Genetics and Genomics Residents Provides Insight Into Recruitment Efforts.” American Journal of Medical Genetics. Part A 194, no. 8: e63623. https://doi.org/10.1002/ajmg.a.63623.
Hoskovec, J. M., R. L. Bennett, M. E. Carey, et al. 2018. “Projecting the Supply and Demand for Certified Genetic Counselors: A Workforce Study.” Journal of Genetic Counseling 27, no. 1: 16–20. https://doi.org/10.1007/s10897‐017‐0158‐8.
Ilgaz, F., S. Ford, M. F. O'Driscoll, and A. MacDonald. 2023. “Adult PKU Clinics in the UK‐Users' Experiences and Perspectives.” Nutrients 15, no. 20: 4352. https://doi.org/10.3390/nu15204352.
Jenkins, B. D., C. G. Fischer, C. A. Polito, et al. 2021. “The 2019 US Medical Genetics Workforce: A Focus on Clinical Genetics.” Genetics in Medicine 23, no. 8: 1458–1464. https://doi.org/10.1038/s41436‐021‐01162‐5.
Jibson, M. D. 2007. “Interactions Between Physicians and Industry: A Guide for Clinicians.” Focus: The Journal of Lifelong Learning in Psychiatry 4: 398–406.
Kruszka, P., and D. Regier. 2019. “Inborn Errors of Metabolism: From Preconception to Adulthood.” American Family Physician 99, no. 1: 25–32.
Liehr, T., I. M. Carreira, Z. Balogh, et al. 2019. “Regarding the Rights and Duties of Clinical Laboratory Geneticists in Genetic Healthcare Systems; Results of a Survey in Over 50 Countries.” European Journal of Human Genetics 27, no. 8: 1168–1174. https://doi.org/10.1038/s41431‐019‐0379‐4.
Maiese, D. R., M. Lyon, H. V. Reddi, M. G. Blitzer, J. N. Bodurtha, and M. Muenke. 2023. “The 2019 Medical Genetics Workforce: A Focus on Laboratory Geneticists.” Genetics in Medicine 25, no. 6: 100834. https://doi.org/10.1016/j.gim.2023.100834.
Mattingly, A. N., and T. J. Mattingly 2nd. 2018. “Advancing the Role of the Pharmacy Technician: A Systematic Review.” Journal of the American Pharmacists Association 58, no. 1: 94–108. https://doi.org/10.1016/j.japh.2017.10.015.
Mealer, W. F., D. N. Singh, and S. O. Murray. 1981. “The Social Worker's Role in Genetic Counseling.” Journal of the National Medical Association 73, no. 12: 1159–1162.
Melvill, K., J. Fitzpatrick, and D. S. Rosenblatt. 2023. “Perspective on the Future of Genetic Counseling Assistants – Should It Be a Steppingstone or a Stand‐Alone Career?” Molecular Genetics and Metabolism 138, no. 1: 107370. https://doi.org/10.1016/j.ymgme.2022.107370.
Mordenti, M., M. Tremosini, M. Locatelli, et al. 2023. “Cost‐Effectiveness of Bringing a Nurse Into an Italian Genetic Day Clinic: A Before and After Study.” BMC Health Services Research 23, no. 1: 1278. https://doi.org/10.1186/s12913‐023‐10238‐8.
Morgenthau, A., C. Margus, M. P. Mackley, and A. P. Miller. 2022. “Rare Disease Education Outside of the Classroom and Clinic: Evaluation of the RARE Compassion Program for Undergraduate Medical Students.” Genes (Basel) 13, no. 10: 1707. https://doi.org/10.3390/genes13101707.
Muth, B. L., D. Krieger, H. Domingo, et al. 2023. “The Current State of Transplant Advanced Practice Providers: Results of the Advanced Practice Provider Practice Survey.” American Journal of Transplantation 23, no. 3: 408–415. https://doi.org/10.1016/j.ajt.2022.12.010.
National Association of Social Workers. 2003. “NASW Standards for Integrating Genetics Into Social Work Practice.” https://www.socialworkers.org/Practice/NASW‐Practice‐Standards‐Guidelines/NASW‐Standards‐for‐Integrating‐Genetics‐into‐Social‐Work‐Practice.
National Society of Genetic Counselors. 2023a. “2023 Professional Status Survey.” https://www.nsgc.org/Policy‐Research‐and‐Publications/Professional‐StatusSurvey.
National Society of Genetic Counselors. 2023b. “2023 Professional Status Survey: Executive Summary.” https://www.nsgc.org/Portals/0/2023%20PSS%20Executive%20Summary.pdf.
NurseJournal. 2023. “Nurse Practitioner Practice Authority: A State‐by‐State Guide.” https://nursejournal.org/nurse‐practitioner/np‐practice‐authority‐by‐state/.
Patch, C., and A. Middleton. 2018. “Genetic Counselling in the Era of Genomic Medicine.” British Medical Bulletin 126, no. 1: 27–36. https://doi.org/10.1093/bmb/ldy008.
Patterson, W. G., L. M. Tribble, C. S. Hopkins, T. K. Fasolino, and L. D. Ward. 2023. “Workforce Survey of PAs' Genetic‐Genomic Knowledge, Attitudes, and Application in Practice.” Journal of the American Academy of Physician Assistants 36, no. 9: 34–40. https://doi.org/10.1097/01.JAA.0000947044.74047.11.
Pickard, T., S. Williams, E. Tetzlaff, C. Petraitis, and H. Hylton. 2023. “Team‐Based Care in Oncology: The Impact of the Advanced Practice Provider.” American Society of Clinical Oncology Educational Book 43: e390572. https://doi.org/10.1200/EDBK_390572.
Quintana, K. B., I. Miller, and D. S. Reiger. 2024. “The Impact of Home‐Based Call on Sleep Patterns and Wellness in Genetics and Metabolism Physicians Compared With Subspecialists.” Genetics in Medicine Open 2: 101819. https://doi.org/10.1016/j.gimo.2024.101819.
Rajasekar, P., S. Gannavarapu, M. Napier, et al. 2020. “Parental Psychosocial Aspects and Stressors Involved in the Management of Inborn Errors of Metabolism.” Molecular Genetics and Metabolism Reports 25: 100654. https://doi.org/10.1016/j.ymgmr.2020.100654.
Sanderson, S., A. Green, M. A. Preece, and H. Burton. 2006. “The Incidence of Inherited Metabolic Disorders in the West Midlands, UK.” Archives of Disease in Childhood 91, no. 11: 896–899. https://doi.org/10.1136/adc.2005.091637.
Sechi, A., E. Fabbro, M. Langeveld, et al. 2019. “Education and Training in Adult Metabolic Medicine: Results of an International Survey.” Journal of Inherited Metabolic Disorders Reports 49, no. 1: 63–69. https://doi.org/10.1002/jmd2.12044.
Singh, R. H., T. Pringle, and A. Kenneson. 2021. “The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID‐19 Pandemic.” Frontiers in Nutrition 8: 637868. https://doi.org/10.3389/fnut.2021.637868.
Sirrs, S., C. Hollak, M. Merkel, et al. 2016. “The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report From the SSIEM Adult Metabolic Physicians Group.” Journal of Inherited Metabolic Disorders Reports 27: 85–91. https://doi.org/10.1007/8904_2015_435.
Summar, M. 2014. “Save the Biochemical Geneticists!” Molecular Genetics and Metabolism 113, no. 1–2: 2–3. https://doi.org/10.1016/j.ymgme.2014.09.006.
Terry, P. O. 1981. “Clinical Social Work Roles in an Integrative, Interdisciplinary Team: Enhancing Parental Compliance.” Social Work in Health Care 6, no. 4: 1–15. https://doi.org/10.1300/J010v06n04_01.
Tohms, A., A. Krutish, and J. N. Hartley. 2023. “Refining the Activities of Genetic Assistants: Development of Task Statements Applicable Across Practice Settings.” American Journal of Medical Genetics. Part A 194, no. 4: e63487. https://doi.org/10.1002/ajmg.a.63487.
Viau, K., S. Gaughan, J. Kopesky, et al. 2024. “P.56 Compensation for Metabolic Dietitians Practicing in North America: Genetic Metabolic Dietitians International 2023 Professional Status Survey.” Molecular Genetics and Metabolism 141, no. Suppl 1: 108422. https://doi.org/10.1016/j.ymgme.2024.108422.
Vockley, J., N. Brunetti‐Pierri, W. K. Chung, et al. 2023. “The Evolving Role of Medical Geneticists in the Era of Gene Therapy: An Urgency to Prepare.” Genetics in Medicine 25, no. 4: 100022. https://doi.org/10.1016/j.gim.2023.100022.
Werner‐Lin, A., J. L. M. McCoyd, M. H. Doyle, and S. J. Gehlert. 2016. “Leadership, Literacy, and Translational Expertise in Genomics: Challenges and Opportunities for Social Work.” Health & Social Work 41, no. 3: e52–e59. https://doi.org/10.1093/hsw/hlw022.
Williamson, L., and D. B. LeBlanc. 2008. “A Genetic Services Practice Model: Advanced Practice Nurse and Genetic Counselor Team.” Newborn and Infant Nursing Reviews 8, no. 1: 30–35. https://doi.org/10.1053/j.nainr.2007.12.011.

Auteurs

Kara Simpson (K)

Children's National Hospital, Washington, District of Columbia, USA.

Stephanie Offord (S)

Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.

Chanel Suares (C)

The University of California, Los Angeles School of Medicine, Los Angeles, California, USA.

Jerry Vockley (J)

University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Classifications MeSH