|
FALL 2004
Tracking Birth Defects, Cancer Using Medical
Genomics
A family has an unusually high incidence of
various cancers and many members of the family also have subtle
musculoskeletal or craniofacial abnormalities. Is there a
connection?
Clinicians and researchers at UCSF have established
the Medical Genomics Clinic to serve families with a family
history of multiple neoplasias and congenital anomalies such
as musculoskeletal anomalies and minor cardiac defects. The
service recognition of a family with a cancer syndrome is
important for several reasons, including the initiation of
cancer surveillance, identification of relatives at increased
cancer risk and recurrence-risk counseling for the family.
Clinic services include a comprehensive evaluation,
including a dysmorphology examination of the proband and family,
genetic counseling and follow-up services. Family members
have the opportunity to enroll in research studies on the
common genetic basis of cancers and birth defects.
Dr. Katherine A. Rauen, a medical geneticist
and pediatrician, says investigators will apply array-based
genome hybridization (array CGH) to scan for possible chromosomal
aberrations at a significantly higher resolution than is possible
with conventional cytogenetic techniques. The hope is that
current these array-based comparisons can be used to locate
common genetic pathways between the cancer and the abnormality,
offering insight into the genetic basis of cancer as well
as normal development, she says.
To contact Rauen or Nicola Stewart, a genetic
counselor, please call the UCSF Cancer Risk Program at (415)
885-7779. A referral form is available online.
Medical Genetics (415) 476-2757
UCSF ChildrenĘs Hospital is a leader in comprehensive medical genetics testing, diagnostic evaluation, genetic counseling and treatment for adults and children with known or suspected genetic disorders or congenital anomalies. Our expertise includes inborn errors of metabolism, malformation syndromes, mental retardation syndromes, hemoglobinopathies, inherited neurologic disorders and familial cancer syndromes. Prenatal genetic counseling and diagnosis are provided in conjunction with the reproductive genetics services. We were the first to develop prenatal tests for sickle cell anemia.
Fall
2004 Table of Contents
Click here to subscribe to this newsletter.
|