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Volume 3 , Issue 1 Date: Spring, 2003 Topic: Expectations Through Life's Passages

Genetic Counseling

by Maureen A. Flynn (1) and Jeff M. Milunsky (1,2,3)

(1) Center for Human Genetics, Boston University School of Medicine
(2) Department of Pediatrics, BUSM
(3) Department of Genetics and Genomics, BUSM

What is genetic counseling?
Genetic counseling is the communication of the occurrence and risks of recurrence of genetic disorders within a family.

Who are genetic counselors?
Genetic counselors are health professionals with specialized degrees in medical genetics and genetic counseling. Most genetic counselors have a masterís degree, while some genetic counselors have nursing degrees. Board certification exams for genetic counselors include the American Board of Genetic Counseling (ABGC) and the American Board of Medical Genetics (ABMG).

Why are individuals and couples referred for prenatal genetic counseling?
Individuals and couples are referred for prenatal genetic counseling for many different reasons, including (but not limited to) screening and/or diagnostic prenatal testing, ultrasound and chromosome abnormalities, prenatal exposures, and high-risk pregnancies.

Individuals and couples are also referred if they have a personal or family history of a known genetic concern or potential genetic concern. Examples include (but are not limited to):
1) A family history of Down syndrome or other chromosome disorder
2) A family history of Fragile X syndrome
3) A family history of developmental delay, either by itself or with other additional features, such as behavioral problems, seizures, or physical traits that do not match those seen within the family.
4) A family history of autism spectrum or pervasive developmental disorder (PDD)

Couples are also referred if they have had a previous child with developmental delay, and the cause of the delay has not been identified.

How is an individual or couple referred for genetic counseling?
Referrals for genetic counseling are typically made by primary care physicians. For prenatal counseling, referrals may be made by the womanís OB/GYN physician.

What should I expect from a prenatal genetic counseling session? What should I expect from the genetic counselor?

The genetic counselor will first discuss your expectations for the genetic counseling session and why you or your family was referred for genetic consultation. The counselor will collect your pregnancy, medical, and family history. If there is a personal or family history of developmental delay*, the counselor will ask detailed information regarding the developmental history and possible additional features of that individual. Information gathered would include any medical concerns, medication use, and school issues.

The genetic counselor will interpret the medical information (usually in conjunction with a supervising clinical geneticist) and give clear explanations. This is the opportunity for individuals and families to have their questions answered. In fact, the genetic counselor will likely anticipate many of your questions. The counselor will discuss potential inheritance patterns and recurrence risks for future pregnancies. Available options (including testing options) based on this information are discussed. The role of the counselor is also to provide support for the family and for their decision-making process (which may be stressful and/or emotional). The counselor serves as an advocate for you and your family.

*If a couple has a child with any of these concerns without a known cause, their child should be evaluated by a clinical geneticist. The physician can perform a thorough physical exam in order to determine if there are other medical concerns or a potential genetic diagnosis for the child. This will also be useful in determining the medical management of the child. The clinical examination can be done in conjunction with a genetic counseling session or separately.

Mr. and Mrs. Smith have been referred for prenatal genetic counseling. They have one son (Tim) and they are currently 15 weeks pregnant. Tim is currently five years old and has a diagnosis of developmental delay. Tim requires help through special programs at his school and he is receiving speech therapy and physical therapy. Tim was evaluated by a clinical geneticist two years ago for his developmental delay and was noted to have some facial features that were consistent with a diagnosis of a specific genetic syndrome. DNA testing was available for this syndrome and confirmed Timís clinical diagnosis. Mr. and Mrs. Smith were told at that time that they were both carriers of the syndrome (with no medical problems themselves) and that there would be a recurrence risk for any future pregnancies.

During the prenatal counseling session, the genetic counselor collected a detailed family history and detailed pregnancy history for both the Smithís first and current pregnancy. The counselor discussed Timís diagnosis in detail and answered any questions that the Smiths had. The Smiths indicated that they were interested in support groups specific to Timís diagnosis, and the counselor was able to provide them with that contact information. The counselor discussed the inheritance pattern and recurrence risk of 25% for the current pregnancy. Prenatal diagnosis, specifically DNA testing via amniocentesis, was an available option for the Smiths for this pregnancy. The counselor discussed the risks and benefits of amniocentesis. The counselor helped the couple to explore how they felt about such testing and whether or not they wanted to know if the current pregnancy has the same diagnosis as Tim. The counselor provided support for the family and for their decision-making process. The Smiths decided that they did not want to pursue prenatal diagnosis for their pregnancy, as they accepted the possibility of having another child with the same diagnosis as Tim. The Smiths were grateful for the information that they received and that they were able to make a choice that was best for their family.

How can I benefit from the information provided in a genetic counseling session?
A genetic counseling appointment is designed to be comprehensive in that genetic information can be presented and interpreted in a way that is meaningful for the family. This information enables individuals, parents, and families to be more fully knowledgeable regarding their pregnancy risks and options.

Maureen Flynn, M.S.
Maureen Flynn, M.S.

Originally from Chicago, Illinois, Maureen Flynn received her Masterís degree in medical Genetics from the University of Wisconsin-Madison. She became Board Certified in Genetic Counseling in the fall of 2002 and subsequently moved to Boston, Massachusetts for her current job at the Boston University School of Medicine. Maureen is a prenatal genetic counselor at the Boston Medical Center and a DNA coordinator at the BUSM Center for Human Genetics. She is currently pursuing her Masterís degree in Public Health at Boston University.

Jeff Milunsky, M.D.

Jeff Milunsky, M.D,

Jeff Milunsky recived his M.D. degree, magna cum laude from Boston University School of Medicine in 1992.He completed his residency in Pediatrics and two fellowships in Clinical Genetics, and Clinical Molecular Genetics. He is currently an Associate Director of the Center for Human Genetics at Boston University School of Medicine. He is involved in teaching, research, and clinical genetics consultations. He has a particular research interest in the genetic etiology of deafness and mental retardation.

To learn more please visit: and click on Consumer Information and click on Genetic Counseling Services

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