Zabel
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
No Content
Syndrome Only
Basic
Category
Detailed
Results
Number of Specialties
ABMS ABIM Total
5/24 6/19 11/43
(21%) (32%) (26%)
6/24 9/19 15/43
(25%) (47%) (35%)
4/24 3/19 7/43
(17%) (16%) (16%)
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
ABAI
ABA
ABIM
Adolescent
Medicine
ABMG
ABOG
(ABP)ath
(ABP)ed
ABPM
ABPN
ABR
MOLECULAR
BIOLOGY
X
X
X
X
X
X
X
Results
FAMILY
HISTORY
PATTERNS OF
INHERITANCE
GENETIC
COUNSELING
X
X
X
X
X
X
X
X
GENETIC
TESTING
LABORATORY
TECHNIQUES
X
X
X
X
X
X
X
X
X
X
X
X
X
ETHICS
X
X
X
X
X
X
Category
Molecular Biology
Results
Number of Specialties
7/43 (16%)
Family History
Patterns of Inheritance
Genetic Counseling
Genetic Testing
Laboratory Techniques
Ethics
2/43 (4.7%)
4/43 (9.3%)
4/43 (9.3%)
8/43 (19%)
4/43 (9.3%)
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
