1. EXPECTED COMPETENCIES RELATED TO GENETICS AMONG BOARD-CERTIFYING ORGANIZATIONS Carrie A. Zabel, M.S. Certified Genetic Counselor Paul V. Targonski, M.D., Ph.D. Associate Professor of Medicine Mayo Clinic Eisenberg Genomics Education Program

2. Background Understanding genetics and genomics is important to clinical care. Medical professionals show deficiencies in the practice of genomic medicine. "Translation of genomic research discoveries to improved clinical outcomes can occur only with an informed professional workforce." -Collins, F. (2004). AMFP 70(9): 1637-42.

3. Theory The lack of genetics/genomics knowledge by current physicians is, in part, influenced by competing priorities among certifying specialty boards. Breadth of competence Clear evidence of application Few physicians are expected to know practical applications of genetics to become certified. Thus, curriculum and extramural learning does not make genetics content a priority.

4. Methods 24 specialties were identified via the American Board of Medical Specialties website (www.abms.org).www.abms.org Also included 19 subspecialty categories of American Board of Internal Medicine (ABIM). Reviewed online certification study guides and exam content outlines to extract genetics/genomics-related concepts.

5. American Board of Medical Specialties American Board of Allergy and Immunology American Board of Anesthesiology American Board of Colon and Rectal Surgery American Board of Dermatology American Board of Emergency Medicine American Board of Family Medicine American Board of Internal Medicine American Board of Medical Genetics American Board of Neurological Surgery American Board of Nuclear Medicine American Board of Obstetrics and Gynecology American Board of Ophthalmology American Board of Orthopaedic Surgery American Board of Otolaryngology American Board of Pathology American Board of Pediatrics American Board of Physical Medicine and Rehabilitation American Board of Plastic Surgery American Board of Preventative Medicine American Board of Psychiatry and Neurology American Board of Radiology American Board of Surgery American Board of Thoracic Surery American Board of Urology

6. American Board of Internal Medicine Subspecialties Adolescent Medicine Cardiovascular Disease Clinical Cardiac Electrophysiology Critical Care Medicine Endocrinology, Diabetes & Metabolism Gastroenterology General Internal Medicine Geriatric Medicine Hematology Hospice & Palliative Medicine Infectious Disease Interventional Cardiology Medical Oncology Nephrology Pulmonary Disease Rheumatology Sleep Medicine Sports Medicine Transplant Hepatology

7. Methods No content No exam preparation materials available; OR The information which was available was non-specific. Syndromes only Recognition of specialty-specific syndromes for which a genetic etiology has been defined; knowledge of genetics was not otherwise specified.

8. Syndrome Examples Cystic fibrosis Sickle cell anemia Myotonic dystrophy Down syndrome Huntington disease Hereditary breast and ovarian cancer syndrome Lynch syndrome Fragile X Tay-Sachs disease Marfan syndrome Ehlers-Danlos syndrome Phenylketonuria Congenital adrenal hyperplasia Factor V Leiden Polycystic kidney disease Spinal muscular atrophy Tuberous sclerosis Neurofibromatosis

9. Methods Basic genetics A statement regarding the basic understanding of genetics was included. Detailed A statement regarding the basic understanding of genetics was included, as well as specific concepts.

10. Basic genetics example https://www.abos.org/documents/Part_I_Exam_Contents.pdf

11. Detailed example http://www.abpath.org/MOCCS-CP-MG.htm

12. Results CategoryNumber of Specialties ABMS ABIM Total No Content 5/24 6/19 11/43 (21%) (32%) (26%) Syndrome Only 6/24 9/19 15/43 (25%) (47%) (35%) Basic 4/24 3/19 7/43 (17%) (16%) (16%) Detailed 9/24 1/19 10/43 (38%) (5%) (23%) *Note: A majority of the boards that expected detailed content also expected basic and practice-specific syndrome knowledge.

13. Methods In the specialties which were considered detailed, additional themes were further distilled including: Molecular Biology Family History Patterns of Inheritance Genetic Counseling Genetic Testing Laboratory Techniques Ethics

14. Results MOLECULAR BIOLOGY FAMILY HISTORY PATTERNS OF INHERITANCE GENETIC COUNSELING GENETIC TESTING LABORATORY TECHNIQUES ETHICS ABAI XX ABA XX ABIM Adolescent Medicine XX ABMG XXXXXXX ABOG XXXXXXX (ABP)ath XX X (ABP)ed XX ABPM XX ABPN XXXXX ABR XX

15. Results CategoryNumber of Specialties Molecular Biology7/43 (16%) Family History2/43 (4.7%) Patterns of Inheritance4/43 (9.3%) Genetic Counseling4/43 (9.3%) Genetic Testing8/43 (19%) Laboratory Techniques4/43 (9.3%) Ethics6/43 (14%) *Note: American Board of Medical Genetics (ABMG) is included in this data set.

16. Conclusions Certifying organizations most commonly (35%) expect practicing physicians to only know genetic syndromes specific to their practice. Approximately 40% of these organizations expected certifying physicians to have a basic working knowledge of the science.

17. Conclusions The most common detailed content was genetic testing; however, a majority of these same boards lacked any emphasis on genetic counseling. NCHPEG core competencies list the collection and assessment of family history as a basic skill, but virtually none of the boards (4.7%) expected certifying physicians to be competent in this area.

18. Conclusions NCHPEG provides a solid framework to advocate for additional content in certifying exams to bring genetics to medical practice. Practical applications of genetics and genetic counseling competencies will be critical for the optimal application of genetics to health.

19. Acknowledgments The George M. Eisenberg Foundation for Charities Mayo Clinic Eisenberg Genomics Education Program