Connecticut Children’s Office for Community Child Health is home to the Connecticut Newborn Screening Network (the Network), which responds to flagged newborn screening results in the state. The Network is staffed by board-certified physicians, genetic counselors, nurses, and a nurse analyst. Genetic counselors play a key role in interpreting screening results, supporting families, and ensuring appropriate follow-up care. We are fortunate to have such skilled genetic counselors within the Network, and we are equally grateful for the expertise of other genetic counselors across various departments throughout the hospital, where they contribute to a broad range of patient care services.
Genetic counselors have been around for over 50 years, but many people still do not know what genetic counselors do. If you are unsure about what genetic counselors do or what to expect in a session, here is an overview of their role and how they can assist you.
1. Who Are Genetic Counselors?
Genetic counselors are healthcare professionals trained in medical genetics, counseling, and education. They help individuals understand complex genetic information and how it may affect their health and family. Genetic counselors hold a Master’s degree and are board-certified. Some states also issue licensure. Genetic counselors collaborate with your other healthcare providers to help create a medical plan that is tailored to you / your children.
Genetic counselors work in various fields, including newborn screening, cancer, prenatal care, cardiology, neurology, infertility, pediatrics, and adult medicine. They may work directly with patients, and they can also work in research, public health, or in genetic testing labs.
2. What’s the Difference Between a Genetic Counselor and a Geneticist?
While a genetic counselor can help with testing decisions and explaining results, a medical geneticist will make the actual diagnosis of a disease or condition. A geneticist is a medical doctor with advanced training in genetics.
3. What Is Genetic Counseling?
At its core, genetic counseling is a conversation. It’s an opportunity to ask questions and understand genetics in a clear, easy-to-understand way. Genetic counselors explain how conditions are inherited, discuss what genetic testing or screening options are available, and help interpret test results. They provide emotional support and respect your values in the decision-making process. Genetic counselors can also help to find support groups or research studies that you might be interested in learning more about.
4. What Happens During a Genetic Counseling Session?
Sessions typically last 30 minutes to an hour, and you can bring a family member or friend for support. Your genetic counselor will explore your family health history, explain testing options, and clarify what those tests can and cannot reveal. They may help arrange testing, work with your insurance, and provide resources for support or specialist referrals. Genetic counselors don’t tell you what to do; they ensure you have the information you need to make informed decisions.
5. How Can I Prepare for a Genetic Counseling Visit?
Review your family’s medical history, as genetic counselors will ask about the health of your close relatives. Bringing copies of medical records or previous genetic testing can also be helpful. Some people find that making a list of questions to review with their genetic counselor can be helpful. You can also review your insurance companies’ policy on what they do or do not cover regarding genetic testing. If you do not know how to do this, you can also discuss this with the genetic counselor.
6. What Should I Do During a Counseling Appointment?
Ask questions and share any concerns. The genetic counselor is there to help you.
7. Should I See a Psychologist Instead of a Genetic Counselor?
Genetic counselors specialize in helping individuals understand genetic risks, explaining test results, and guiding discussions to help people/families explore how genetic testing or screening might or might not help them. While genetic counselors can offer emotional support, they are not licensed therapists. If psychological counseling is needed, they can help with a referral to a therapist or psychologist.
8. Why Is Genetic Counseling Important for Genetic Testing and Screening?
There are many different genetic tests and screening tests options. Genetic counselors have special training to help you understand the benefits and limitations of them. Some insurance companies require genetic counseling before agreeing to cover the cost of genetic testing.
In addition, genetic test results can sometimes be complex or uncertain, and genetic counselors can help you navigate those uncertainties. They ensure you fully understand your results and what they mean for your health and family.
9. What About Privacy?
All genetic counseling sessions and test results are protected under the Health Insurance Portability and Accountability Act (HIPAA), the law that ensures the privacy of your medical records.
10. How Can I Get an Appointment for Genetic Counseling?
Genetic counselors often work in hospital settings. Talk with your healthcare providers about making a referral. Some centers allow the referral to be specifically for genetic counseling, without seeing the medical geneticist. The wait times to see a genetic counselor are usually shorter than to see a geneticist. If it is determined that a visit with a geneticist is needed after the genetic counseling visit, the genetic counselor could help to arrange that referral. If you are already scheduled to see a medical geneticist, it is likely that you will also meet with a genetic counselor during that appointment.
Genetic counselors are essential resources in healthcare, working across a range of medical specialties, including newborn screening. They help families navigate complex genetic information, explain testing options, and offer support when results are delivered. With their expert guidance and compassionate care, genetic counselors empower individuals to make informed decisions about their health, ensuring that genetic choices are both manageable and personalized.