Ernest Lieber, M.D.
Primary Goals for this Rotation
Prevention, Counseling and Screening
Understand the role of the pediatrician in preventing genetic disease, and
in counseling and screening individuals at risk for these diseases.
Avoidance of known teratogens during pregnancy (e.g. isotretinoin and
alcohol), and reassurance about most substances, that is not teratogenic.
Provide prenatal and postnatal genetic preventive counseling to parents and
patients with specific genetic conditions.
Normal Versus Abnormal
Differentiate disorders in patients associated with genetic predisposition
or genetic disease from normal states or acquired disorders.
Describe general concepts that explain chromosome structure and spontaneous
mutations, and molecular genetic techniques commonly used in diagnosis of
genetic diseases.
Describe common patterns of Mendelian vs. non-Mendelian inheritance (autosomal
dominant and recessive, X-linked, multifactorial, and the effect of maternal
and paternal age) and demonstrate the ability to construct a pedigree.
Identify common disorders with unusual inheritance patterns and describe the
mode of inheritance, including: Fragile X, MERRF, and MELAS.
Identify appropriate clinical and laboratory tests to help identify genetic
diseases and inborn errors of metabolism. Explain the reason for the test to
a family and interpret the results, with the assistance of a geneticist.
Undifferentiated Signs and Symptoms
Evaluate, treat, and/or refer patients with the presenting signs and
symptoms that suggest a genetic disease process.
Genetic Conditions Followed by a General Pediatrician
Assist in diagnosis of genetic conditions and counseling of parents, under
the supervision of a geneticist.
Provide primary care for and participate as a team member in medical and
educational planning for a patient with a genetic disorder.
Identify resources in your community for diagnosis, genetic counseling,
therapy, and psychosocial support of children with genetic defects and
congenital anomalies.
Conditions Requiring Urgent Referral
Recognize and respond to urgent and/or severe conditions related to genetics
and inherited metabolic disorders.
Identify, explain, provide initial management and support, and seek urgent
referral for the genetic and/or metabolic conditions.
Physiologic changes or regression of milestones that suggest a possible
metabolic etiology (e.g., urea cycle disorders, mitochondrial disorders,
lysosomal storage diseases and abnormalities of organic/amino metabolism)
Molecular Medicine
Recognize genetic factors in common diseases of childhood and adulthood
Discuss current knowledge regarding the molecular basis of common childhood
and adult conditions.
Identify the current and future uses of DNA testing in the office setting,
including diagnosis of infectious diseases using DNA, pharmacogenetic
testing for inborn errors of metabolic pathways prior to prescribing, DNA
chips to identify genetic etiologies for complex disorders (e.g. congenital
heart disease, seizure disorders, etc.).
BRONX-LEBANON HOSPITAL CENTER
