What is Genetic Counseling?

Genetic counseling involves helping individuals and families to understand the implications of genetics on their health and family life. Genetic counselors work with patients to learn about their medical and family history (including looking for common red flags) and assess their risk for a genetic condition. From there, the counselor will help the patient decide whether to seek genetic testing. As specialized healthcare professionals, genetic counselors collaborate closely with medical geneticists (who are medical doctors). 

If genetic testing is done, genetic counselors will review the test results with patients and assist them in making decisions based on those results. In addition to discussing medical information, genetic counselors may provide guidance on broader questions and concerns, including offering psychological counseling to patients with genetic conditions or risks. Often, a genetic counselor will also direct patients to additional helpful resources, including advocacy and support groups.

Learn Why Patients Seek Genetic Counselors — and the Services They Receive

1. Personal or family history of cancer

Individuals or families with a history of cancer often worry about whether they have an underlying genetic predisposition to the disease. To help, genetic counselors and medical geneticists can evaluate the patterns of cancer occurrence within a family. Based on this evaluation and a discussion with the patient, a counselor may recommend genetic testing to look for gene mutations associated with an increased risk of developing cancer. If you have a personal or family history of cancer, you might receive testing such as:

  • TP53 testing: TP53 gene mutations are associated with Li-Fraumeni syndrome, a hereditary cancer syndrome that increases the risk of developing cancer, including breast cancer, sarcomas, brain tumors and others. Testing for TP53 mutations can help identify people with increased susceptibility to multiple cancers.
  • PTEN testing: PTEN gene mutations are linked to Cowden syndrome, which is characterized by an increased risk of developing breast, thyroid and uterine cancers, as well as other non-cancerous conditions. Genetic testing for PTEN mutations can aid in the diagnosis and management of patients with a family history of these cancers.
  • CDH1 testing: CDH1 gene mutations are associated with hereditary diffuse gastric cancer syndrome. Testing for CDH1 mutations is recommended for people with a strong family history of stomach cancer. The results can reveal your level of cancer risk and inform surveillance and preventive measures.

2. Family history of hereditary disease

Clinical genetic counselors also evaluate families with a history of specific hereditary diseases to look for an underlying genetic cause. By gaining an understanding of the genetic basis of a condition, healthcare providers will then be able to offer better management and screening recommendations. Some examples of genetic testing for people with a family history of hereditary diseases include:

  • Polycystic kidney disease (PKD) testing: PKD is a genetic disorder that leads to kidney dysfunction and is characterized by the development of numerous cysts in the kidneys. Genetic testing can detect mutations in the PKD1 or PKD2 genes and confirm the diagnosis for those with a family history of the disease.
  • Hereditary hemochromatosis testing: Hereditary hemochromatosis is a condition characterized by excessive iron absorption and accumulation in the body, which can lead to organ damage. Genetic testing for mutations in the HFE gene can identify if you are at risk and allow for early detection and management of iron overload.
  • Hereditary neuropathy testing: Hereditary neuropathies are inherited peripheral nerve disorders that can cause muscle weakness, sensory abnormalities, and other symptoms. Genetic testing can expose mutations in genes such as PMP22, MFN2 or GJB1, providing a definitive diagnosis and informing treatment strategies.

3. Preconception carrier screening

Before they conceive, individuals or couples can seek preconception carrier screening to learn if they carry genetic variants that increase the risk of having a child with a hereditary condition. Through genetic testing, these prospective parents can get the information needed to make informed decisions about family planning, prenatal testing or assisted reproductive technologies. Some common examples of preconception carrier screening tests include:

  • Alpha-thalassemia carrier screening: Alpha-thalassemia is an inherited blood disorder involving reduced production of hemoglobin. Carrier screening can detect mutations in the HBA1 and HBA2 genes, which are associated with alpha-thalassemia, helping you understand your risk of passing the condition to your children.
  • Spinal muscular atrophy (SMA) carrier screening: SMA is a genetic disorder that affects the motor neurons, leading to muscle weakness and progressive loss of movement. Carrier screening for SMA can determine whether you carry mutations in the SMN1 gene and are at risk of having a child with SMA.
  • Fragile X syndrome carrier screening: Fragile X syndrome is a genetic condition causing intellectual disability and other developmental delays. Carrier screening can show if you are carrying premutation or full mutation expansions in the FMR1 gene, which are associated with Fragile X syndrome. This knowledge helps you assess the risk of passing the condition to your offspring.

4. Healthy screening for cancer predisposition, inherited cardiac disorder and carrier status

Healthy individuals may also seek out clinical genetic services to find out if they have an increased risk of developing certain conditions, including cancer predisposition syndromes, inherited cardiac disorders and carrier status for specific genetic conditions. These patients might receive genetic testing such as:

  • Hereditary breast and ovarian cancer panel: This genetic test examines multiple genes associated with hereditary breast and ovarian cancer syndromes, including BRCA1, BRCA2, TP53 and others. It helps identify genetic mutations that may contribute to an elevated risk of developing these cancers.
  • Long QT syndrome (LQTS) screening: LQTS is an inherited cardiac disorder that affects the heart’s electrical system, leading to abnormal heart rhythms and an increased risk of sudden cardiac arrest. Genetic testing can detect mutations in genes such as KCNQ1, KCNH2 and SCN5A, providing an early diagnosis and allowing for management strategies that increase a patient’s health and lifespan.
  • Carrier screening for cystic fibrosis-related conditions: Carrier screening can be performed to identify carriers of genetic variants associated with cystic fibrosis and CFTR-related conditions. Examples include testing for mutations in the CFTR gene associated with conditions like cystic fibrosis, congenital bilateral absence of the vas deferens (CBAVD) or pancreatitis.

Want to Meet with a Genetics Counselor? Here’s How to Make it Happen.

Genetic testing can lead to information and a diagnosis that is incredibly valuable for you and your family members. If you’re interested in seeing a genetic counselor, talk with your primary care doctor about your reasons and what services you’re looking for. Hopefully, your care provider can provide a recommendation or referral to genetic counseling or a genetics clinic. You may also be able to directly reach out to a genetics clinic or genetic counselor to inquire about their services and schedule an appointment.

At SequenceMD, we offer in-person and telemedicine genetic evaluation and counseling services for adult patients and are licensed to see patients in Colorado, Wyoming, Arizona and Michigan. Our practice is committed to providing efficient access to patient-centered medical evaluations that include genetic counseling, testing and interpretation. For patients who have an established genetic or metabolic diagnosis, we also provide ongoing specialty care for periodic review of the natural history as well as interval health assessments and management and care recommendations. To learn more about our services, submit a request online or get in touch with our team at 303-832-7109 or info@sequencemd.com!