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

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.

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.

Methods

• 24 specialties were identified via the American Board of Medical Specialties website (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.

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

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

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.

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

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.

Basic genetics example

https://www.abos.org/documents/Part_I_Exam_Contents.pdf

Detailed example

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

ResultsCategory Number 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.

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

ResultsMOLECULAR

BIOLOGYFAMILY

HISTORYPATTERNS OFINHERITANCE

GENETICCOUNSELING

GENETICTESTING

LABORATORYTECHNIQUES

ETHICS

ABAI X X

ABA X X

ABIMAdolescentMedicine

X X

ABMG X X X X X X X

ABOG X X X X X X X

(ABP)ath X X X

(ABP)ed X X

ABPM X X

ABPN X X X X X

ABR X X

ResultsCategory Number of Specialties

Molecular Biology 7/43 (16%)

Family History 2/43 (4.7%)

Patterns of Inheritance 4/43 (9.3%)

Genetic Counseling 4/43 (9.3%)

Genetic Testing 8/43 (19%)

Laboratory Techniques 4/43 (9.3%)

Ethics 6/43 (14%)

*Note: American Board of Medical Genetics (ABMG) is included in this data set.

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.

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.

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.

Acknowledgments

• The George M. Eisenberg Foundation for Charities

• Mayo Clinic Eisenberg Genomics Education Program