AAFP Core Educational Guidelines
Medical Genetics: Recommended Core Educational Guidelines for Family Practice Residents
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Am Fam Physician. 1999 Jul 1;60(1):305-307.
This document has been endorsed by the American Academy of Family Physicians and was developed in cooperation with the American College of Medical Genetics, the Association of Professors of Human and Medical Genetics, the Association of Departments of Family Medicine, the Association of Family Practice Residency Directors and the Society of Teachers of Family Medicine.
The resident should develop attitudes that encompass the following:
Recognition of the importance of the family physician, the medical geneticist and the genetics team as collaborators in the evaluation, diagnosis and management of patients referred for genetic consultation.
Recognition of the need for sensitivity to the patient's and family's concerns relating to referral for genetic evaluation and diagnosis of a genetic disorder.
Recognition of the importance of confidentiality, ethical and legal issues involved in medical genetics.
Basic principles of human and medical genetics
Genes and chromosomes
Basic Mendelian inheritance patterns (hair/eye color, blood type)
Non-Mendelian inheritance patterns
Trinucleotide repeats (fragile X syndrome, Huntington's disease)
Imprinting (Prader-Willi syndrome, Angelman's syndrome)
Uniparental disomy (Prader-Willi syndrome, Angelman's syndrome)
Ethical and legal considerations/controversies
Screening for genetic abnormalities
Presymptomatic genetic testing (breast cancer, Huntington's disease)
Carrier testing for genetic disorders
Responsibility to inform
Discrimination issues (insurance coverage, employment)
Terminology used in medical genetics (mosaicism, incomplete penetrance, variable expressivity, pleomorphic, malformation, deformation, disruption, dysmorphic, minor/major anomaly, homozygote, heterozygote, allele, polymorphism)
Laboratory studies and research
Fluorescent in situ hybridization
Polymerase chain reaction, sequencing, mutation detection
Limitations of genetic testing (polymorphism versus mutation)
The genetic implications of common disorders and conditions
Trisomy (13, 18 and 21 [Down syndrome])
Sex chromosome anomalies (Turner's syndrome, Klinefelter's syndrome)
Translocations, inversions, deletions
Cri du chat syndrome
Congenital short stature
Familial ademomatous polyposis
Endocrine (diabetes, thyroid)
Amino acids (phenylketonuria, maple syrup urine disease)
Fatty acid oxidation
Lysosomal storage (Tay-Sachs disease)
Growth hormone deficiency
l. Alpha1-antitrypsin deficiency
Skeletal/connective tissue abnormalities
Congenital heart disease
Familial idiopathic cardiomyopathy
Idiopathic hypertrophic septal hypertrophy (subaortic stenosis)
von Willebrand's disease
Benign familial tremor
Neural tube defects
Impact of folate supplementation
Cleft lip and palate
Addictive personality disorder
Bipolar affective disorder
Associated with genetic disorders
Multiple marker screening
Maternal influence factors
Medications/drugs and chemical exposure
Approach to the dysmorphic child/adult with multiple congenital abnormalities
Common questions and misconceptions
Magnetic field effects
The Human Genome Project
Multiple births (twins)
Preparation of a genogram/pedigree
Identification of local community resources for genetic counseling and consultation
Identification of pertinent community groups addressing the needs of patients and families with genetically based disorders
Basic genetic counseling for family physicians
The implementation of this curriculum component should take place during the longitudinal learning experiences throughout the 36 months of training. The curricular content should be integrated into the conference schedule and into teaching activities in the family practice center. Relevant resource and patient information materials should be available in the residency library.
Resourcesshow all references
National Academy of Sciences. Genetic screening: programs, principles, and research. Washington, D.C.: 1975....
Gould RL. Cancer and genetics: answering your patients' questions. Huntington, N.Y.: PRR, 1997.
Doukas DJ. Primary care and the human genome project. Into the breach. Arch Fam Med. 1993;2:1179–83.
Strong C. Tomorrow's prenatal genetic testing. Should we test for ‘minor’ diseases? Arch Fam Med. 1993;2:1187–93.
Rimoin DL, Connor JM, Pyeritz RE. Emery and Rimoin's Principles and practice of medical genetics. 3d ed. New York: Churchill Livingstone, 1997.
Jorde LB, Carey JC, White RL. Medical genetics. St. Louis: Mosby, 1997.
Thompson MW, McInnes RR, Willard HF. Thompson & Thompson Genetics in medicine. 5th ed. Philadelphia: Saunders, 1991.
OMIM Home Page. Online Mendelian Inheritance in Man: www.ncbi.nlm.nih.gov/Omim/
Copyright © 1999 by the American Academy of Family Physicians.
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