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Am Fam Physician. 1999;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:

  1. 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.

  2. 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.

  3. Recognition of the importance of confidentiality, ethical and legal issues involved in medical genetics.


  1. Basic principles of human and medical genetics

    Genes and chromosomes





    Basic Mendelian inheritance patterns (hair/eye color, blood type)

    Autosomal dominant

    Autosomal recessive

    X-linked dominant

    X-linked recessive

    Non-Mendelian inheritance patterns


    Mitochondrial (MELAS)

    Trinucleotide repeats (fragile X syndrome, Huntington's disease)

    Imprinting (Prader-Willi syndrome, Angelman's syndrome)

    Uniparental disomy (Prader-Willi syndrome, Angelman's syndrome)

  2. Ethical and legal considerations/controversies

    Screening for genetic abnormalities

    Prenatal-preconception testing

    Presymptomatic genetic testing (breast cancer, Huntington's disease)

    Carrier testing for genetic disorders


    Risk assessment

    Responsibility to inform

    Discrimination issues (insurance coverage, employment)

    Informed consent

    Paternity determinations

  3. Terminology used in medical genetics (mosaicism, incomplete penetrance, variable expressivity, pleomorphic, malformation, deformation, disruption, dysmorphic, minor/major anomaly, homozygote, heterozygote, allele, polymorphism)

  4. Laboratory studies and research


    Fluorescent in situ hybridization

    Polymerase chain reaction, sequencing, mutation detection

    Gene mapping

  5. Limitations of genetic testing (polymorphism versus mutation)

  6. The genetic implications of common disorders and conditions

    Chromosomal abnormalities

    Trisomy (13, 18 and 21 [Down syndrome])

    Sex chromosome anomalies (Turner's syndrome, Klinefelter's syndrome)

    Translocations, inversions, deletions

    Microdeletion syndromes

    Cri du chat syndrome

    Familial variants

    Congenital short stature

    Delayed-onset puberty


    Colon cancer

    Breast cancer

    Ovarian cancer

    Prostate cancer

    Wilms' tumor


    Familial ademomatous polyposis

    Geriatric disorders

    Alzheimer's disease

    Parkinson's disease

    Metabolic disorders

    Endocrine (diabetes, thyroid)

    Amino acids (phenylketonuria, maple syrup urine disease)

    Organic acids

    Fatty acid oxidation

    Energy metabolism

    Lysosomal storage (Tay-Sachs disease)

    Syndrome “X”

    Lipid disorders

    Biotinidase deficiency

    Growth hormone deficiency

    Precocious puberty

    l. Alpha1-antitrypsin deficiency

    Skeletal/connective tissue abnormalities



    Osteogenesis imperfecta



    Ehlers-Danlos syndrome

    Marfan syndrome


    Congenital heart disease

    Cystic fibrosis

    Aortic aneurysm

    Familial idiopathic cardiomyopathy

    Idiopathic hypertrophic septal hypertrophy (subaortic stenosis)

    Hematologic disorders

    Immunoglobulin deficiencies


    Sickle cell


    Clotting disorders


    von Willebrand's disease

    Hypercoagulable disorders

    Gastrointestinal abnormalities

    Esophageal atresia

    Pyloric stenosis


    Esophageal “web”


    Neuromuscular disorders

    Charcot-Marie-Tooth disease

    Myotonic dystrophy

    Tourette's syndrome

    Benign familial tremor

    Muscular dystrophies

    Neural tube defects

    Spina bifida


    Impact of folate supplementation

    Craniofacial abnormalities

    Cleft lip and palate

    Craniosynostosis syndromes

    Psychiatric disorders

    Attention-deficit/hyperactivity disorder


    Addictive personality disorder

    Bipolar affective disorder

    Associated with genetic disorders

    Prenatal abnormalities

    Prenatal screening


    Multiple marker screening


    Carrier screening

    Tay-Sachs disease

    Canavan's disease

    Gaucher's disease

    Cystic fibrosis


    Maternal influence factors

    Medications/drugs and chemical exposure



  7. Approach to the dysmorphic child/adult with multiple congenital abnormalities

  8. Common questions and misconceptions

    Ionizing radiation

    Magnetic field effects

    The Human Genome Project

    Multiple births (twins)


    Genetic engineering


  1. Preparation of a genogram/pedigree

  2. Identification of local community resources for genetic counseling and consultation

  3. Identification of pertinent community groups addressing the needs of patients and families with genetically based disorders

  4. 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.

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