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.

Attitudes

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.

Knowledge

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)

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

   Confidentiality

   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

   Karyotype

   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

   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

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)

   Cloning

   Genetic engineering

Skills

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

Implementation

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.