Clinical Genetics Services

Genetics deals with biological information or DNA/genes that we pass from one family member to another. DNA/Genes influence how our bodies grow, how we look, and how we learn. Health or learning problems can result from changes (mutations) in our genetic information. Some of these medical conditions can be inherited; others are not. The knowledge of the inheritance of specific traits is important if medical, educational or family planning decisions need to be considered.

You or a family member may be referred for a genetic evaluation by your physician because of the following reasons:

  • The presence of birth defects, unique physical features, significant learning problems, mental retardation, growth delays or developmental delays
  • A possible inherited health problem in your family or your partner's family or a child or family member who has or may have a chromosomal abnormality or other specific DNA or biochemical genetic condition, such as Down syndrome, sickle cell anemia, cystic fibrosis or muscular dystrophy
  • A close family member who has a condition that seems to run in the family, such as certain cancers, heart disease or mental illness
  • A pregnancy that might be at risk for a genetic disorder based on parental  age, ethnic background, an abnormal prenatal screening blood test or an abnormal ultrasound finding
  • A pregnancy that may be at risk for a birth defect due to an illness in the mother (such as diabetes, viruses, high fevers) or by something the mother was exposed to (such as medications, drugs, alcohol, chemicals)
  • Three or more unexplained miscarriages

We offer a team of two clinical geneticists and three genetic counselors who provide comprehensive clinical genetic services. Individuals and families present for a variety of reasons:

  • To have a clinical genetic evaluation
  • To learn information about the natural course of a condition caused by genetic factors
  • To learn strategies for prevention of certain disorders
  • To inform themselves of options for future diagnostic studies and treatment including the risks and benefits of recommended tests
  • To obtain information about the risk to other family members to be affected or to have an affected child
  • To discuss issues regarding prenatal diagnosis
  • To be evaluated for recurrent miscarriages
  • To undergo carrier testing
  • To receive pre-marital and pre-conceptional counseling
  • To receive interpretation of genetic test results
  • To obtain information regarding resources for families

Patients are seen in the Genetics Clinic, which is held several times weekly.  In addition, over 30 outreach clinics are held throughout the year for patients unable to travel to the Medical Center. These clinics are held in Hickory, Boone, North Wilkesboro, Greensboro, and Statesville, and are partially funded by the State of North Carolina.

Our Maternal Serum Screening program refers families for consultation and diagnosis to our OB/GYN specialists.

Genetic Counseling Services 

Genetic counseling services provide information for patients and referring physicians concerning genetic conditions as well as diagnostic testing. This information is current and includes discussions regarding the nature and consequences of the disorder, prenatal testing, recurrence risks and reproductive options.

The genetic counselors also play a supportive role to patients by discussing  psychological considerations. They aid in helping families cope with a genetic condition by supporting their goals in a nondirective way. The genetic counselors work closely with the laboratory directors and clinical geneticists.

Often, it is the genetic counselor who will identify specialized laboratories for additional testing and make all the necessary arrangements. These individuals help in maintaining a comprehensive approach for patient care and management. Our genetic counselors are also active in educating the public and physicians regarding new developments in Genetics.

What is genetic counseling?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.  This process integrates the following:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Enlightenment about inheritance, testing, management, prevention, resources and research
  • Counseling to promote informed choices and adaptation to the risk or condition

Genetic counselors work with families at all ages and stages of life from preconception (preimplantation genetic diagnosis and family planning) through birth (newborn screening) and into adulthood (late onset diseases).

Genetic counseling services are offered here at CepEsperu Baptist Medical Center for individuals who do not need diagnosis of a particular condition, but who, instead, need to discuss a particular condition or genetic concern in themselves or their family.  The Genetic Counseling Clinic is available weekly.