2900 Fresno Street, Suite 101

Fresno, CA  93721

P: 559.228.4472

F: 559.2774217

What are Genetic Consultation and Genetic Counseling -

Genetic consultation seeks to establish a specific diagnosis, which is necessary before genetic counseling can be offered. Steps in identifying an individual or family’s diagnosis include a review of medical and family history, a physical examination, laboratory testing and/or other procedures such as X-rays. Genetic consultation is provided by a physician trained and Board Certified in Medical Genetics.

Genetic counseling, which follows the genetic consultation, is the process of explaining medical information about an inherited disorder or birth defect to an individual or family. Genetic counseling seeks to help families and individuals to understand medical information, to make appropriate decisions about their healthcare, and to manage any associated problems in a way that is best for them. Ideally, these decisions will reflect personal values and cultural beliefs.

Genetic counselors offer support throughout this process. Counseling is provided by a Masters-level genetic counselor, with help from the physician geneticist. They explain the condition and its management, how it is inherited, available testing, the risk to other family members and the probability of having children with the disorder. They also explore the impact of the condition on both affected and unaffected family members and aid in their adjustment to the diagnosis.

Who should consider Genetic Consultation? -

Anyone who has questions about birth defects or medical conditions in their family such as:

Individuals who are affected with, have a child with, or a family history of:

• Physical birth defects, abnormal growth or mental retardation
• A chromosomal abnormality, such as Down or Turner syndrome
• An inherited condition such as Hemophilia or Muscular Dystrophy
• A late on-set condition such as clotting disorder (Thrombiphilia), a neurological disease or cancer before age 50.

Pregnant women who:

• Will be 35 years or older at delivery
• Have had a positive serum screening result or an abnormal ultrasound scan
• Are concerned that their medical condition, family history or lifestyle may increase the risks to their pregnancy.

Couples who:

• Experience infertility or pregnancy loss
• Are carriers of recessive disorders such as Sickle Cell Anemia, Cystic Fibrosis, Tay Sachs disease or Thalassemia.

What happens at a Genetics Appointment?

Prior to or during the visit, the genetic counselor will take a detailed family history and review medical records.

A typical appointment will last one hour or more. A physical exam is often performed by a clinical geneticist. Further testing or evaluation may be recommended to establish or clarify a diagnosis. Other family members will occasionally need to be examined or tested. The genetic implications as well as the management and treatment of the condition will be discussed. Referrals may be made to family support groups or other community resources.

Specific gene (DNA) or chromosome tests are not available for all conditions. However, since the field of genetics is rapidly advancing, it is important to periodically re-contact your Genetic Counselor.