What is the difference between a genetic counselor and a geneticist (clinical geneticist)?

A genetic counselor is a healthcare professional trained to provide information and support to people who have, or may be at risk for, genetic disorders [2]. A geneticist, or clinical geneticist, is a physician who specializes in diagnosing and managing complex genetic conditions [4]. Both work together to help individuals and families understand the genetic aspects of their health.

A genetic counselor focuses on discussing genetic risks, providing counseling before or during pregnancy, or when planning to have a child, and helping individuals understand test results and treatment options [2]. A clinical geneticist provides specialized consultations that require a physician's expertise in genetics, which may include performing a physical examination and ordering blood tests or other genetic tests [4].

The Role of a Genetic Counselor

A genetic counselor is a healthcare professional with training and experience in clinical genetics, counseling, and communication skills, particularly with families who have genetic conditions [4]. Their tasks include collecting personal and family health histories to determine the likelihood of a genetic condition, and then helping to determine if genetic testing is appropriate [3]. Genetic counselors may focus on specific areas such as prenatal, pediatric, or cancer genetic counseling, or other specialized areas like cardiovascular health or psychiatry [3]. They also assist in understanding test results and treatment options, provide emotional support, and may refer patients to other healthcare providers or support groups [3].

The Role of a Geneticist (Clinical Geneticist)

A clinical geneticist is a physician who specializes in genetics [4]. A clinical geneticist is distinguished by their ability to diagnose genetic conditions, provide expert advice on genetic risks for you and your children, perform medical examinations, order and interpret genetic tests, and develop treatment plans for complex genetic conditions [4]. Reasons for referral to a clinical geneticist may include a known genetic condition in the family, a child experiencing difficulties that may be caused by a genetic condition, a strong family history of cancer, or abnormal pregnancy test results [4].

When to Consult Either?

You may need genetic counseling if you have a personal or family history of a genetic condition or birth defect, if you are pregnant or planning to become pregnant after age 35, if you have a child with a genetic disorder, or if you have a history of recurrent miscarriage or stillbirth [2]. Consultation can also be useful if ultrasound scans or screening tests show a potential problem [2]. A genetic counselor can help you understand these risks and make informed decisions, including whether genetic testing is right for you [3].

A clinical geneticist is usually consulted when a precise medical diagnosis of a genetic condition is needed, or to manage and treat these conditions. If genetic test results are complex and require deep medical interpretation, or if there is a need to develop a customized treatment plan for a diagnosed genetic condition, a clinical geneticist is the most appropriate professional [4]. A clinical geneticist can be an essential part of the healthcare team for individuals living with complex genetic conditions that require ongoing medical follow-up.

Collaboration Between the Genetic Counselor and the Geneticist

Genetic counselors and clinical geneticists often work together as a team to provide comprehensive patient care. A genetic counselor can be the first point of contact to assess risks and provide initial information, while the clinical geneticist steps in for complex diagnoses, physical examinations, and the development of medical treatment plans. This collaboration ensures that patients receive both informational and emotional support, as well as specialized medical care.

For more information about genetic counseling and what to expect from the session, you can visit Genetic Counseling: When Do You Need It and What to Expect from the Session? (Arabic)

Medical references

• Genetic Counseling
• Genetic Counseling
• About your Clinical genetics appointment | Great Ormond Street Hospital