Medical Genetics: Recommended Core Educational Guidelines for Family Practice Residents

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

Genogram/pedigree

Components

Preparation

Interpretation

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

Autosomal dominant

Autosomal recessive

X-linked dominant

X-linked recessive

Non-Mendelian inheritance patterns

Multifactorial

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)

1. 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

Confidentiality

Risk assessment

Responsibility to inform

Discrimination issues (insurance coverage, employment)

Informed consent

Paternity determinations

1. Terminology used in medical genetics (mosaicism, incomplete penetrance, variable expressivity, pleomorphic, malformation, deformation, disruption, dysmorphic, minor/major anomaly, homozygote, heterozygote, allele, polymorphism)
2. Laboratory studies and research Karyotype

Fluorescent in situ hybridization

Polymerase chain reaction, sequencing, mutation detection

Gene mapping

1. Limitations of genetic testing (polymorphism versus mutation)
2. 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

Oncology

Colon cancer

Breast cancer

Ovarian cancer

Prostate cancer

Wilms' tumor

Retinoblastoma

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

Talipes

Syndactyly

Osteogenesis imperfecta

Achondroplasia

Scoliosis

Ehlers-Danlos syndrome

Marfan syndrome

Cardiopulmonary

Congenital heart disease

Cystic fibrosis

Aortic aneurysm

Familial idiopathic cardiomyopathy

Idiopathic hypertrophic septal hypertrophy (subaortic stenosis)

Hematologic disorders

Immunoglobulin deficiencies

Hemoglobinopathies

Sickle cell

Thalassemia

Clotting disorders

Hemophilia

von Willebrand's disease

Hypercoagulable disorders

Gastrointestinal abnormalities

Esophageal atresia

Pyloric stenosis

Tracheoesophageal

Esophageal “web”

Obesity

Neuromuscular disorders

Charcot-Marie-Tooth disease

Myotonic dystrophy

Tourette's syndrome

Benign familial tremor

Muscular dystrophies

Neural tube defects

Spina bifida

Syringomyelia

Impact of folate supplementation

Craniofacial abnormalities

Cleft lip and palate

Craniosynostosis syndromes

Psychiatric disorders

Attention-deficit/hyperactivity disorder

Schizophrenia

Addictive personality disorder

Bipolar affective disorder

Associated with genetic disorders

Prenatal abnormalities

Prenatal screening

Alpha-fetoprotein

Multiple marker screening

Ultrasound

Carrier screening

Tay-Sachs disease

Canavan's disease

Gaucher's disease

Cystic fibrosis

Hemoglobinopathies

Maternal influence factors

Medications/drugs and chemical exposure

Diabetes

Infections

1. Approach to the dysmorphic child/adult with multiple congenital abnormalities
2. Common questions and misconceptions Ionizing radiation

Magnetic field effects

The Human Genome Project

Multiple births (twins)

Cloning

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.