Confessions of a Genetic Counselor: Questions I Wish Patients Would Ask (And the One I Wish They Didn’t)

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I have been a genetic counselor for more than ten years. I have spoken with thousands of patients and have answered questions about a multitude of topics. Each question is important, but there are some that are not asked often enough. Here is a list of the five questions I wish every patient would ask me.

ONE: What is folic acid? Why do I need it?

Folic acid is a B vitamin. It is found in many foods, including leafy green vegetables, fruit, and meats. Folic acid is also added to many manufactured foods, including breakfast cereals, bread, and pasta. Having adequate amounts of folic acid has been shown to reduce the risk of certain birth defects, including spina bifida. In order to provide the greatest benefit, folic acid needs to be taken prior to conception.Most of us do not receive enough folic acid in our diet. Because of this, it is recommended that all women, ages 15-45, take a folic acid supplement each day. Typically the amount found in a daily multivitamin or a prenatal vitamin is sufficient, but some women may benefit from additional supplementation. Talk to your doctor about how much folic acid is right for you.

TWO: What is carrier screening? How might I use this information?

Carrier screening provides patients information about their risk to have a child with certain inherited genetic conditions. It is usually offered for autosomal recessive conditions like cystic fibrosis, for which both partners need to be carriers in order to be considered at high-risk (25%) to have an affected child. Carrier screening may also be offered to women for x-linked diseases, such as fragile X syndrome, as female carriers are at high-risk (up to 50%) of having affected sons.

Eighty percent of children born with an  inherited genetic disorder have no family history of their condition. Thus carrier screening may be the only way to help identify if you are at high risk to have an affected  child. If you and/or your partner are identified to be at an increased risk to have a child with an inherited condition, there are many reproductive options available to you, including preimplantation genetic diagnosis (PGD) and/or prenatal diagnosis.

THREE: Should I have testing for Down syndrome during my pregnancy?

This is a personal decision, but it may be helpful to have some basic information before deciding.

First, the majority of people with Down syndrome did not inherit the condition from a parent but rather the cause was a sporadic event that occurs at the time of conception. While the chance for a baby to have Down syndrome does increase as women get older, a baby who has Down syndrome may be born to any woman, at any age.

Second,  there are many  options available that can provide you with information on the chance to have a child with Down syndrome. Screening tests provide you with a probability of a baby having Down syndrome. Many patients use these results to decide if they want to pursue diagnostic testing, which provides definitive information about whether or not a baby has this condition. Other patients decide to skip screening and go directly to diagnostic testing. Still others decide not to have any screening or testing during their pregnancy.

When deciding what might be right for you, it is important to consider what you are concerned about and what you would do with the information the results provide you.

FOUR: There is breast cancer on my dad’s side of the family. Is that important information?

Yes. While most cases of breast cancer are not the result of an inherited susceptibility, some are (remember Angelina Jolie?), and these may be passed down from your mother or your father. Some findings in a family history that are suggestive of an inherited breast cancer susceptibility include, breast cancer diagnosed under the age of 50, more than one person on the same side of the family with the same type of cancer, individuals on the same side of the family with related cancers (one family member with breast cancer, another with ovarian cancer), one person diagnosed with multiple cancers, and having a male relative diagnosed with breast cancer. Determining if your family has an inherited breast cancer susceptibility is helpful in determining your personal risk to develop cancer, as well as ensuring you are receiving appropriate cancer screening. So, do not ignore your father’s family history, and if you are interested in additional information, schedule an appointment with a cancer genetic counselor. You can find a local counselor by visiting www.nsgc.org.

FIVE: Should I take a direct-to-consumer genetic test?

It depends on the information you are looking for. There are many companies that offer direct-to-consumer genetic testing (genetic testing your doctor does not need to order). Some tests offer information about ancestry, others about the risk of common medical conditions, including diabetes and heart disease, and still others offer testing for inherited conditions, such as sickle cell anemia. While these companies are able to provide you a test result, most do not provide a thorough interpretation of your results, as this typically requires information about your personal health history, as well as your family history. If you are looking to figure out if you might be Irish rather than German, this testing may be helpful. But, if you are trying to make decisions about your health care, or about having a family based on these results, it is best to meet with a medical provider who can help you decide what testing might be appropriate and, most importantly, who can provide follow-up counseling to you about your results.

In my practice, there is one question that I have been asked more than any of the others combined. It is the one question I wish my patients would not ask me.

What would you do?

When patients ask this, they may be  looking for guidance, often as they are experiencing one of the most difficult situations they have ever been in. In some cases, I know what I would do, but for others, these are situations I have never personally experienced so I do not know what I would do.

Even if I was able to adequately answer you, what might be best for me, may not be best for you. We are different people, with different partners, different support systems, and different beliefs. Rather than looking for me to tell you what I would do, let me help you determine what the important considerations are for you, so you are able to make the decision that is best for you and your family. Genetic information and genetic testing is complex, and in some cases, it may be difficult for families. I want to help you navigate this process, not tell you what to do.

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About Author

Sheila Johal

Sheila Johal is a licensed genetic counselor with CooperGenomics who counsels patients about their test results, and educates both patients and their physicians. She came to CooperGenomics after nine and a half years at MetroHealth Medical Center in Cleveland, Ohio, where she provided prenatal, general and cardiovascular genetic counseling. Sheila graduated with a master’s degree in Medical and Molecular Genetics with a focus in Genetic Counseling from Indiana University – Purdue University Indianapolis in 2006. Prior to attending graduate school, she also received a Bachelor of Science in Biology and a Bachelor of Arts in Psychology from Kent State University. She has a specific interest in disorders of hemoglobin and is passionate about educating genetic counseling students. When she is not working, Sheila spends time with her husband and children, watching football, and coordinating her book club.

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