Transcript EXPECTED COMPETENCIES RELATED TO GENETICS AMONG …

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
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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
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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
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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
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Gastroenterology
General Internal Medicine
Geriatric Medicine
Hematology
• Hospice & Palliative
Medicine
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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
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Cystic fibrosis
Sickle cell anemia
Myotonic dystrophy
Down syndrome
Huntington disease
Hereditary breast and
ovarian cancer
syndrome
• Lynch syndrome
• Fragile X
• Tay-Sachs disease
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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
Results
Category
Number of Specialties
ABMS
ABIM
Total
No Content
5/24
(21%)
6/19
(32%)
11/43
(26%)
Syndrome Only
6/24
(25%)
9/19
(47%)
15/43
(35%)
Basic
4/24
(17%)
3/19
(16%)
7/43
(16%)
Detailed
9/24
(38%)
1/19
(5%)
10/43
(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:
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Molecular Biology
Family History
Patterns of Inheritance
Genetic Counseling
Genetic Testing
Laboratory Techniques
Ethics
Results
MOLECULAR
BIOLOGY
ABAI
X
ABA
X
FAMILY
HISTORY
PATTERNS OF
INHERITANCE
GENETIC
COUNSELING
GENETIC
TESTING
LABORATORY
TECHNIQUES
ETHICS
X
X
ABIM
X
X
Adolescent
Medicine
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
X
X
ABPN
X
ABR
X
X
X
X
Results
Category
Molecular Biology
Number of Specialties
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