When to see a Genetic Counselor

Who benefits from genetic counseling?

The field of genetics is rapidly expanding as our knowledge about the genetic basis of human disease continues to grow. Therefore, we offer genetics services to an ever-growing population of individuals. In general, individuals who are known to be at risk, or even suspected of being at risk, of being affected by a hereditary condition may benefit from genetic counseling. 

What type of genetics services may I benefit from?

PRENATAL/REPRODUCTIVE

Couples who are currently pregnant or are planning pregnancy benefit from this service. Prenatal counselors may help with carrier screening, counseling regarding recurrence risks for known familial conditions, prenatal testing for pregnancies suspected to be affected by a genetic condition, routine prenatal screening (the "Down syndrome test"), counseling regarding abnormal ultrasound findings, and assisted reproductive technology.

CANCER

Genetic counseling may be warranted in individuals with a strong personal or family history of cancer. Cancer counselors may help provide a personalized risk of developing cancer and offer genetic testing for cancer predisposition syndromes.

Common reasons for seeing a cancer counselor include: having a personal history of certain early-onset cancers or having multiple related cancers, a strong family history of related cancers and/or early-onset cancer, or a known family history of a cancer predisposition syndrome (i.e. Hereditary Breast/Ovarian Cancer syndrome, Lynch syndrome). 

PEDIATRIC/GENERAL GENETICS

Individuals who are suspected to have, or are at known risk of having, a genetic condition may be evaluated in a general genetics clinic. Typically these clinics involve a genetic counselor as well as a geneticist or advanced practice provider (such as an NP or PA) specialized in genetics, and potentially other health care providers. Services include identifying a potential diagnosis for the individual as well as coordination of genetic testing for that condition.

Common reasons for being seen in a genetics clinic include but are certainly not limited to: birth defects/congenital heart defects, developmental delay or autism, known chromosome differences, family history of known genetic disease, positive newborn screening, and muscle diseases/muscular dystrophies.

CARDIOLOGY

Heart disease is common and has many causes, however, some forms of heart disease have a genetic or inherited cause. Services include coordination of genetic testing to identify the underlying reasons for the heart disease, which may also help identify at-risk family members.

Common conditions that warrant testing include: arrhythmia syndromes (i.e. Long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome), familial and pediatric cardiomyopathies, and connective tissue disorders with aortic involvement (i.e. Marfan syndrome, vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome). 

GENERAL/ADULT GENETICS

Individuals who are suspected to have a genetic condition may be evaluated in a general genetics clinic, often by a genetic counselor as well as a team of specialty providers. Services include identifying a potential diagnosis for the individual as well as coordination of genetic testing for that condition. 

NEUROLOGY

Children and adults with personal or family history of some types neurological diseases benefit from evaluation and counseling. This type of clinic may overlap with pediatric or general genetics clinic.

Common reasons to be seen a neurology genetics clinic include: neuromuscular disorders (muscular dystrophies, neuropathies), Huntington's disease, leukodystrophies, family history of hereditary, early-onset Alzheimers disease, other progressive neurological conditions.

*This list is not comprehensive; specialty clinics specializing in one particular genetic condition or group of conditions may be available in certain hospitals or health systems.