Genetic and Birth Defects Program

Scope of Care

Patients of all ages are seen, from neonates with multiple malformations to elderly patients with late-onset neurologic disorders. Thousands of genetic syndromes and inherited conditions exist, and our scientific knowledge of them is expanding rapidly. The OHSU-CDRC Genetics and Birth Defects Program has an extensive staff of medical geneticists and genetic counselors to assist primary care providers in the diagnosis and care of individuals with both common and uncommon genetic disorders. When appropriate, patients may consult with specialists in genetic ophthalmology, pediatric cardiology, endocrinology, neurology, dermatology, and developmental pediatrics. The program is jointly administered by the Department of Molecular and Medical Genetics of the OHSU School of Medicine.

Common indications for either self or physician referral include:

• congenital malformations
• dysmorphic facial features
• mental retardation /developmental delay
• short stature
• family history of a possible inherited disorder
• familial neurological disorder
• history of multiple pregnancy losses

Services We Provide

Many clinicians participate in the Genetics and Birth Defects Clinic. Each is versed in general clinical genetics, as well as individual clinical subspecialty areas such as birth defects, cytogenetics, biochemical disorders, and molecular genetics. Patients are evaluated by a board certified genetic counselor and an M.D. medical geneticist. All cases are presented at a post-clinic conference. The clinicians review the family history information, take relevant medical history, and in most cases conduct a physical examination.

Once all the information is gathered, a diagnosis or differential diagnosis is determined and discussed with the family. Additional laboratory or other medical tests may be suggested to confirm or rule out a diagnosis. Following the clinic visit, the family may receive a counseling letter, written by the genetic counselor, outlining the information discussed during the visit. A medical report is sent to the referring health care provider and others at the family's request. Fact sheets, brochures and other publications that address common questions and provide further information on some specific conditions and disorders. Referrals to support groups, as available, are made.

Service Providers

Board Certified clinical geneticists and genetic counselors provide medical, psychosocial, and reproductive counseling to patients. Genetic counselors are trained in both human genetics and counseling techniques. They work as team members in the clinic, providing information and support to families with birth defects and genetic disorders. Medical consultants with expertise in cardiology, neurology, dermatology and developmental pediatrics also participate in the clinic.

How to make a Referral

Referrals are welcome from any source including individuals, parents, educators, caseworkers, physicians, and other health/allied health care providers. Many families require a referral from their primary care provider in order for their insurance to cover the service; if this is the case, our bilingual administrative staff can help you with the process. For more information, or to initiate a referral, please call 503-494-8307 or 800-452-3563 extension 4-8307.

Resources

• Genetics Home Reference (external link)
  Provides consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
• What is a Genetic Disease? (external link)
  From the Genetic Alliance
• Genetic Alliance (external link)
  The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research, and healthcare organizations that represent millions of individuals with genetic conditions and their interests.
• Genetic and Rare Diseases Information Center (external link)
  The Genetic and Rare Diseases Information Center (GARD) provides accurate, reliable and current information on genetic and rare diseases to patients and families, health care professionals and biomedical researchers. It was established by NHGRI and the Office of Rare Diseases (ORD).