Diseases

Your health care provider may refer you to a geneticist - a medical doctor or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a fellowship or has other advanced training in medical genetics. While a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist will make the actual diagnosis of a disease or condition. Many genetic diseases are so rare that only a geneticist can provide the most complete and current information about your condition. Along with a medical geneticist, you may also be referred to a physician who is a specialist in the type of disorder you have. For example, if a genetic test is positive for colon cancer, you might be referred to an oncologist. For a diagnosis of Huntington disease, you may be referred to a neurologist. These online resources can help you find a genetic professional in your community:

• ResourceLink A database of genetics counseling services, searchable by location, name, institution, type of practice or specialty. Hosted by the National Society of Genetic Counselors.
• Genetic Centers, Clinics and Departments A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
• GeneClinics A searchable directory of international genetics and prenatal diagnosis clinics.

SOURCE: National Human Genome Research Institute, "Frequently Asked Questions About Genetic Counseling."

Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. As more has been learned about genetics, genetic professionals have grown more specialized. For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as adolescents) or a type of counseling (such as prenatal).

Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses.

Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic professionals:

• Assess the risk of a genetic disorder by researching a family's history and evaluating medical records.
• Weigh the medical, social and ethical decisions surrounding genetic testing.
• Provide support and information to help a person make a decision about testing.
• Interpret the results of genetic tests and medical data.
• Provide counseling or refer individuals and families to support services.
• Serve as patient advocates.
• Explain possible treatments or preventive measures.
• Discuss reproductive options.

Additional Resources

• What is a genetics consultation?
• What to Expect from a Genetics Consultation