Anyone can use a genetic counselor!
Ever curious why there is a history of cancer in your family? Wanting to start your own family one day, but have questions? Wondering if there is a deeper explanation for a health concern in your life? Genetic counseling may provide insight and guidance!
Genetic counselors are a valuable resource for anyone - not just those with a known genetic condition or family history. Whether helping someone understand a risk for heart conditions, explaning complex test results, or guiding decisions about screening and prevention, they provide personalized, clear, and compassionate information. They are a pivotal part of the healthcare team, working closely with physicians, nurses, specialists, and other providers to ensure patients receive accurate and comprehensive care. Below are some common cases that a genetic counselor may see throughout their day.
A 36 year old woman is pregnant with her third child. It is recommended that any mother who is 35 years or older at the time of delivery meets with a genetic counselor due to the increased risk for large chromosome differences that can be seen in moms 35+, or what is medically referred to as advanced maternal age. A genetic counselor can explain the basics of genetics as well as various screening tools that can be utilized to help the couple and their healthcare team best assess and care for the pregnancy.
Other reasons someone may see a prenatal genetic counselor could include:
Ultrasound findings
Family histories of a health concern
Carrier status
Abnormal screening results
Pre-conception risk assessment or planning
A 40 year old woman knows that her grandmother passed from ovarian cancer and her mother was diagnosed with breast cancer at 47 years old; she wants to learn more about risks for herself and her children, as well as what additional screening methods might be recommended. A cancer genetic counselor can explain to the woman the basics of cancer genetics and what genetic testing criteria she meets. The genetic counselor can provide testing options as well as screenings that are recommended regardless of the woman's decision on genetic testing. Genetic testing for cancer risks can be a very personal decision and factors such as timing, family dynamics, and others can all play a role in that choice. The genetic counselor can help with the decision making process and provide many resources and options to best fit the woman's needs.
To the right is a pedigree, or family tree, drawn by a genetic counselor. This tool allows genetic counselors to visualize family histories and assess risks to the patient. The patient, or proband, is noted with an arrow or triangle. Males are drawn as squares and females as circles, those who are affected by a certain condition are shaded in and labeled.
A 6 year old boy who has autism and experiences developmental delays is referred to genetics for an assessment and genetic testing options. While most cases of autism do not have genetic explanations at this point, we do know that 5-10% of children with autism will have genetic testing findings, or positive results. A pediatric genetic counselor can speak to the child and the parents about the basics of genetics and provide testing options. In addition to a genetic counselor, a geneticist - a doctor with specialized training in genetics - will assist and perform a physical assessment to look for any features or indicators that may raise further genetic concerns.
Other reasons children can be referred to genetics could be due to:
Hearing loss or deafness
Developmental delays or intellectual disability
Birth defects
Family histories of childhood conditions
A 45 year old man knows that he has a family history of Huntington's Disease, a fatal hereditary degenerative neurological condition, and is interested in learning more about his risk. A genetic counselor can help explain the chances of the man being affected and discuss what predictive testing options may look like. Testing for conditions like Huntington's carries a lot of weight, especially as there is no cure or adequate treatment; a genetic counselor can hold space for the emotional and ethical dilemmas that may arise in this decision about testing.
Adult genetic counseling is a broad field and can assist is a variety of needs, including:
Personal or familial cardiac concerns
Early onset vision loss or blindness
Neurological Dysfunction
Hormone or Metabolic concerns