Upmc Genetics (2024)

FAQs

Why am I being referred to genetic counseling? ›

The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include: A personal or family history of a genetic condition, birth defect, chromosomal disorder, or hereditary cancer. Two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died.

Both professions require education and training in genetics. However, one important distinction is that although a master's degree is usually sufficient for a career as a genetic counselor, a doctorate is typical among geneticists, with some opting for a medical degree and others choosing to obtain a Ph. D.

Although genetic counselors tend to be well-respected members of the healthcare team, our roles aren't always clearly defined – there are lots of opportunities for educating other providers on our field.

The most common indications for genetic counseling include advanced maternal age, family history of a genetic condition, and suspected diagnosis of a genetic condition.

Some of the reasons why you might have been referred to clinical genetics include: You have a known genetic condition in the family, and want to know the risks to you and/or your children. You have a child with difficulties which may be due to a genetic condition, and want to see if a diagnosis can be made.

A geneticist (jeh-NET-eh-sist) is a doctor who specializes in the study of genetics and family traits.

Genetic counselors identify hereditary risks through the study of genetics. Specifically, they study genetic disorders or syndromes that are inherited from one's family. Prospective parents may consult genetic counselors to assess the risk of having children with hereditary disorders, such as cystic fibrosis.

Clinical geneticists have medical degrees such as MD, DO or equivalent degrees and have completed at least one residency year in an Accreditation Council for Graduate Medical Education (ACGME)-accredited primary specialty followed by two years of medical genetics and genomics residency training.

Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Results in some cases may return inconclusive or uncertain. Negative impact on family and personal relationships.

What are 5 things a genetic counselor does for a family? ›

Among these critical issues are nondirectiveness; informed consent; confidentiality; multiplex testing; recognizing social and cultural differences; and the need for a genetically literate public.

Most insurance plans cover genetic testing, at least to some extent. But whether a specific person will be covered depends on a number of factors. For example, the person's personal or family cancer history may need to meet certain medical criteria for testing.

There are several locations to have blood taken, and your genetic counselor will discuss available options with you. Sometimes, other laboratory tests (blood or urine) or other special evaluations may be needed to help determine a diagnosis.

Some challenges about being a genetic counselor are possibly not knowing what a disease is or not knowing what a cure could be for a problem. Also dealing with emotional clients and the extensive list of classes that you have to take to be a genetic counselor.

Common topics include: Talking about your family health history and ethnic heritage. Helping you understand the causes of genetic conditions. Helping you understand testing options, diagnosis, or, in some cases, the reason why no diagnosis has been made.

Clinical trials of gene therapy in people have helped treat several diseases and disorders, including: Severe combined immunodeficiency. Hemophilia and other blood disorders. Blindness caused by retinitis pigmentosa.

You may also need this counseling if: You have had multiple pregnancy losses. These include miscarriages, stillbirths, or infant deaths. You or your partner has a genetic disorder or any disorder seen in several generations.

If your baby is at risk for a complex genetic disorder, such as a Down syndrome, trisomy 18, or trisomy 13, our clinicians can counsel you about your options and provide the most innovative treatments and services for you and your baby.