Genetics

Genetics

FAQs

Frequently Asked Questions

What is a genetic disease or disorder?

A genetic disease or disorder is caused by mutations, or changes, in your genes that happen over time. Every cell in your body has thousands of different genes. You inherit two copies of each gene: one from your mother, one from your father. Genes carry all the information that makes you the unique person you are. They determine everything from your eye and hair color to your blood type and whether you’ll be short or tall. And just as your genes can determine if you’ll have a bald spot like your dad or dimples like your mom, they can also determine your chance of getting certain diseases, such as cancer. They can determine if there’s a possibility you may pass on a disease to your child. They can determine if your baby is likely to be born with a genetic condition such as sickle cell disease or cystic fibrosis, or a chromosome problem like Down syndrome.

What is genetic testing?

Genetic testing is used to identify the changes in your genes or your chromosomes that could lead to a genetic or inherited condition. Genetic conditions can affect your health and the health of your children.

What genetic services are available?
  • Preconception genetic counseling
  • Prenatal counseling, screening and diagnosis
  • Neonatal genetics consultation services
  • Pediatric and adult genetic counseling and evaluation
  • Hereditary cancer evaluation
  • Ethnicity-based genetic screening
  • Specialty clinics for metabolic, neurological and renal genetic disorders
Who may be offered genetic tests?

If your personal or family history suggests that genetic testing would be helpful, your health care provider may refer you to a genetic counselor or geneticist for evaluation and to discuss if genetic tests are right for you.  There are also some screening tests that are ordered during pregnancy and after delivery of the baby.

How are genetic tests performed?

Testing is usually done with a small sample of blood, or other body tissue.

When and how will I get results?

The time it takes to get results varies depending on the test. Your genetic or other health care provider will contact you with your results.

Who provides genetic counseling?

Genetic counselors and medical geneticists provide genetic counseling and often work together as a team.

What is a genetic counselor?

Genetic counselors are health care professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Our genetic counselors are certified by the American Board of Genetic Counselors and are licensed in California. Genetic counselors may become a part of your health care team if you have a family history of birth defects, genetic disorders, or may have an increased chance of developing or passing on a genetic or inherited condition.

For more information, please visit NSGC.

What do genetic counselors do?

Genetic counselors are experts who can evaluate your medical history, family history, ancestry and other factors to determine the chance that you or your children will have a genetic condition.   Based on their evaluation they decide when genetic tests are appropriate, which tests to order, and then interpret the meaning of the results for you and your family members.  Genetic counselors understand the emotions involved with genetic testing and are here to support you, whatever the results.

Genetic counselors:

  • Collect detailed family histories to assess the chance that you or your baby may have or may inherit a genetic disorder
  • Decide what tests may or may not be indicated to make a diagnosis
  • Interpret your genetic test results and what they might mean for you and/or your baby
  • Recommend appropriate follow-up medical care
  • Empower and support families in making medical decisions that reflect their personal values and cultural beliefs
  • Address your questions and concerns
What is a medical geneticist?

Medical geneticists are physicians who have specialized training in genetics and are certified by the American Board of Medical Genetics. These doctors know how to diagnose rare genetic conditions and make recommendations about medical care for these conditions. When indicated, the medical geneticist will provide a full physical exam and decide on laboratory tests to rule out or to diagnose a genetic condition. They may refer you to other specialists.

What do medical geneticist do?

Medical geneticists are experts who can evaluate your medical history, family history, ancestry and other factors to determine the chance that you or your children will have a genetic condition. Based on their evaluation they decide when genetic tests are appropriate, which tests to order, and then interpret the meaning of the results for you and your family members. Medical geneticists understand the emotions involved with genetic testing and are here to support you, whatever the results.

Medical geneticists:

  • Perform physical evaluation when indicated
  • Assess the chance that you or your baby may have or may inherit a genetic disease
  • Decide what tests may or may not be indicated to make a diagnosis
  • Interpret your genetic test results and what they might mean for you and/or your baby
  • Recommend appropriate follow-up medical care
  • Empower and support families in making medical decisions that reflect their personal values and cultural beliefs
  • Address your questions and concerns
Where can I see a genetic counselor or medical geneticist?

Genetic providers are located at every medical center in Southern California.

How do I schedule an appointment?

Please contact your health care provider to ask if a referral is right for you.

An in-person appointment is always available for patients who are interested. Kaiser Permanente also offers telephone and video appointments for some visits.

How do I prepare for my appointment? For all genetics appointments:
  • Write down your questions and concerns in advance
  • Think about having someone go with you
  • Complete the appropriate questionnaires about your family’s health history
  • Bring the completed questionnaire to your appointment or have it with you for your phone or video visit
For more information about genetic counselors, visit the National Society of Genetic Counselors Web Site: