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Genetic counselor for pregnancy


Genetic counseling | March of Dimes

Genetic counseling helps you understand how genes, birth defects and medical conditions run in families and how they affect your family’s health.

You may want genetic counseling if health conditions run in your family or if prenatal tests show your baby may be at risk for health conditions.

A genetic counselor can help you understand test results to help you make decisions about your pregnancy and your baby’s care.

You can get genetic counseling before or during pregnancy. Your health care provider can help you find a genetic counselor in your area.

What is genetic counseling?

Genetic counseling helps you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby’s health.

Genes are parts of your body’s cells that store instructions for how your body grows and works. Genes are passed from parents to children. A birth defect is a health condition that’s present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, in how the body develops or in how the body works.

You get genetic counseling from a genetic counselor. Your counselor can be:

  • A certified genetic counselor (also called a CGC). This is someone who has special training to be a genetic counselor.
  • A doctor or nurse with special training in genetic counseling

You can get genetic counseling any time, before or during pregnancy. Your health care provider can help you find a genetic counselor in your area. Or contact the National Society of Genetic Counselors.

Who should get genetic counseling?

You may want genetic counseling if:

  • You have or think you have a genetic condition, or you have a child with a genetic condition, like cystic fibrosis or sickle cell disease, or a birth defect, like a heart defect or cleft lip or palate. These conditions may run in your family or ethnic group. An ethnic group is a group of people, often from the same country, who share language or culture. Some genetic conditions run in ethnic groups. For example, people who are Ashkenazi Jews are more likely than others to have Tay-Sachs disease and other genetic conditions.
  • You’re 35 or older. If you’re older than 35 when you get pregnant, you’re more likely than younger women to have a baby with a birth defect.
  • You and your partner are first cousins or other blood relatives. Blood relatives are related by birth (like children, brothers, sisters, cousins), not by marriage (like sister- or brother-in-law).
  • Your job, lifestyle or medical history may increase your baby’s chances of having a genetic condition or birth defect. For example, working with certain chemicals, like weed killer or radiation, can cause problems for a baby during pregnancy. Using street drugs or abusing prescription drugs also can affect your baby. And some medicines you take to treat a health condition or infection can be harmful to your baby during pregnancy.  
  • An ultrasound or other prenatal test shows that your baby may be at increased risk for a genetic condition or birth defect. An ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. Prenatal tests are medical tests you get during pregnancy. They help your provider find out how you and your baby are doing. 
  • Your baby’s newborn screening results show that your baby may be at risk for genetic condition. Babies get newborn screening before they leave the hospital after birth to check for certain rare but serious health conditions. 
  • You’ve had two or more miscarriages or babies who died after birth. A miscarriage is the death of a baby in the womb before 20 weeks of pregnancy.

What happens at genetic counseling?

When you go to see a genetic counselor, she:

  • Takes your family health history. Your counselor uses this information to see how your family’s health may affect you and your children.
  • May set up appointments for you to have tests to check for genetic conditions. You can get some of these tests before pregnancy to help you understand your chances of passing a genetic condition to your baby. 
  • Helps you understand test results and your baby’s risk for genetic conditions. Your counselor works with you and your health care provider to help you make decisions about your baby’s health.  
  • Refers you to medical specialists, education resources and support groups that focus on your baby’s condition. A support group is a group of people who have the same kind of concerns who meet together to try to help each other.

More information

  • Centers for Disease Control and Prevention (CDC)
  • CDC Show Your Love Campaign
  • Einstein Victor Center for the Prevention of Jewish Genetic Diseases
  • Genetic Alliance 
  • JScreen at Emory University
  • National Center for Education on Maternal and Child Health
  • National Organization for Rare Disorders (NORD) 
  • National Society of Genetic Counselors

Last reviewed: November, 2016

Prenatal Genetic Counseling - HealthyChildren.

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Ages & Stages

Ages & Stages

What is Prenatal Genetic Counseling?

Prenatal genetic counselors work with individuals, couples, or families who have an increased chance of having a child with a birth defect or genetic condition.

Those who are already pregnant or are considering having a child in the future can meet with a prenatal genetic counselor to learn more about the condition in question, understand their risks more clearly, and discuss options for prenatal screening, testing, and/or assisted reproduction techniques such as sperm and egg donation.

During pregnancy, if a baby is found to have a birth defect or genetic condition you may be referred to a prenatal genetic counselor. The counselor will help the expecting parent(s) understand the medical information, what to expect, how to prepare, and options.

Prenatal counselors also help many families who do not have an increased chance of having a child with a birth defect or genetic condition to understand prenatal screening and testing options. Procedures such as blood tests and ultrasounds may be able to give a better idea if a developing baby has a chance of having birth defects or a genetic condition.

Why See a Prenatal Genetic Counselor?

If you:

  • Are worried about a genetic condition or a disease that runs in your family.
  • Have a child who is affected with a genetic condition and are thinking about having another child in the future.
  • Have family members with an intellectual disability or birth defects.
  • Have a history of infertility or pregnancy losses (miscarriages or stillbirths).
  • Are concerned that your health or lifestyle poses a risk to the pregnancy.
  • Are concerned about risks to the pregnancy associated with increasing parental age.
  • Receive abnormal prenatal screening or ultrasound results.
  • Are concerned that you are at increased risk of being a carrier of a genetic condition because of your ethnic background (some diseases are more common in certain ethnicities).
  • Are pregnant and the baby has been diagnosed with a birth defect or genetic condition.
  • Have taken a medication or drug during pregnancy or have been exposed to a chemical and are concerned that it might cause a problem for the baby.

Depending on the reason for the visit, some things a genetic counselor may do during an appointment are:

  • Go over your family and medical history with you.
  • Figure out and explain your chances of having a child with specific genetic conditions.
  • Help you explore and make decisions about your options for screening and testing before and during pregnancy.
  • Help you interpret screening or testing results.
  • Help you understand medical and genetic information.
  • Provide you with information about any problems detected during pregnancy and help you understand your options.
  • Provide counseling and emotional support.
  • Refer you to support and advocacy networks.

Additional Information:
  • Your Family Health History & Genetics
  • Detecting Genetic Abnormalities
  • Reduce the Risk of Birth Defects
  • Tests During Pregnancy
  • Ethical and Policy Issues in Genetic Testing and Screening of Children (AAP Policy Statement)
Last Updated
9/13/2013
Source
Adapted from Making Sense of Your Genes: A Guide to Genetic Counseling (Copyright © 2008 National Society of Genetic Counselors)

The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.

info - Profession: genetic consultant

Genetics-Info

The Atlas of New Professions project predicts the emergence of the genetic consultant profession in Russia by 2020. Only six months remain until the end of the stated period. Meanwhile, this profession has long and successfully existed in developed countries. For example, there are 4,000 genetic consultants in the United States today (not counting geneticists and laboratory geneticists). Why it is so important to introduce the profession of a genetic consultant, how many specialists are needed to cover the need in Russia, and when such a professional standard will appear in our country, discusses Vasilisa Dudurich, a popularizer of genetics. nine0003

What does a genetic consultant do

– There are two specialties related to genetics in the Russian healthcare system: a geneticist and a laboratory geneticist. Both clinicians and other specialists, such as a bioinformatician, a psychologist, a genetic consultant, should cooperate with them.

Tasks of a geneticist: detection of hereditary diseases, their treatment and prevention of the birth of people with hereditary diseases. And the laboratory geneticist actually conducts all the necessary research and gives the result, but does not interpret it. This result goes to a geneticist who makes a diagnosis and prescribes treatment. Unfortunately, not all geneticists can correctly interpret the results, they do not always know the methods used by laboratory geneticists and their limitations. The question arises - who will translate laboratory results for a geneticist? This link is absent in the Russian system today. nine0003

In addition, when a patient receives information about his genome or its individual regions, he has a lot of questions. Moreover, genetics suggests that questions arise not only for him alone, but for each member of the family. To ask all these questions and get comprehensive answers to them, you need to go back to the doctor more than once, who simply does not physically have time to explain everything. In addition, answering these questions is not his professional task. Of course, a geneticist also conducts psychological work, taking into account the characteristics of the family: confessions, nationality, social status. But he does not have to consult. nine0003

Let me remind you, by the way, that in Russia, according to official data, there are only 527 geneticists, including laboratory ones. People wait for months for their turn to see a doctor, which means that geneticists simply cannot take on additional responsibilities.

In our structure there is also a clinician, whose area of ​​expertise is related to the problem - a pediatrician, gynecologist, oncologist... But even they cannot consult a patient, since one semester is read for genetics doctors in Russian medical universities. They simply do not have sufficient knowledge to answer the patient's questions. And they need advice. nine0003

It is in this complex structure that the genetic consultant should perform the communication function. It is he who is competent to answer the questions of both his colleagues and the patients themselves. Communication of information is the main function of a genetic consultant.

Genetic Counseling Abroad

- The first training program for genetic counseling appeared in the USA in 1969. From that moment, the very concept of "genetic consultant" appeared.

Since then, genetic consultants have appeared in all developed countries. You need to understand that these are not doctors. Biologists, psychologists, junior medical personnel can become a consultant geneticist after undergoing specialized training. Doctors can also retrain as consultants, but this is not a medical specialty.

As a rule, training programs (usually master's programs) in genetic counseling are developed depending on the first education of a specialist. nine0003

In the US, there is a practice of taking monthly courses, after which you can pass an exam and get a license to work as a genetic consultant. A system has also been developed there, in which, after graduation, a genetic consultant must, together with a more experienced colleague, analyze cases and attend consultations. After 25-50 such joint consultations, the new employee confirms his professional suitability and receives a license.

Where genetic consultants work

- They can work in large public medical institutions, in commercial institutions, and in individual private genetic counseling offices.

For example, in the USA and Israel, there are several genetic consultants per medical institution. They do not have a medical education, but they are included in the structure because they are assistant doctors.

How many genetic consultants does Russia need

- My personal opinion is that all large medical institutions should have at least one genetic consultant.

According to the recommendation of the Royal College of Physicians (Great Britain), which calculated the need for genetic consultants for countries depending on the population, it is said that the Russian basic need is 900-1700 genetic consultants.

Based on the experience of other countries, a differentiated system can be created. For example, a cancer center should employ a specialist oncogeneticist who understands targeted drugs for cancer treatment and prevention of family cancer. Reproductive health centers should have a consultant specializing in prenatal diagnosis and genetic disorders that complicate pregnancy. And so it is with all institutions. nine0003

By the way, there are fewer geneticists in the US than consultant geneticists. This is expedient, because, firstly, the services of a geneticist are more expensive. In addition, the doctor has his own very serious, intellectually costly tasks, and it is important to free him from non-core work.

Map of genetic consultants worldwide (2017). Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336871/

What prevents the introduction of the profession of "genetic consultant" in Russia

– Firstly, our legislation. Although initially it was biologists who were engaged in genetics, today in our country only a doctor has the right to consult. Even in medical laboratories in Russia it is forbidden to work without a medical education, although it is obvious that such specialists are also needed - for example, bioinformatics. This situation greatly hinders the development of many areas, including genetic counseling. nine0003

Secondly, if a country creates a professional standard for “genetic consultant”, under whose jurisdiction will this profession fall? Who will control its functioning - the Ministry of Health or some other structure? So, the bureaucratic component also plays an important role in the stagnation of this issue.

Well, the financial component, of course, is also very important. The inclusion of a consultant position in medical institutions will require additional budget money.

Counseling Geneticist Curriculum

- I have been involved in genetics since 2010 and I have been pushing for the professional standard of "consulting geneticist" since 2012. The first thing that needs to happen for this to become a reality is the entry into the register of specialties of this profession. When this happens, there will be a curriculum for universities. Even if it will work only on a paid basis, but it should be.

My colleagues and I are currently developing such a curriculum. This is our personal initiative. We do this so that when the moment comes, we already have a document ready. Let it be further refined and corrected later, but we will already have the basis. We are preparing a master's program, which will be open to doctors, biologists, and psychologists. nine0003

I don't know if the profession of genetic consultant will appear in 2020, but our course will definitely be ready by then.

I once calculated that if we produce 10 consultant geneticists a year, we need 170 years to fill the required minimum ... – In recent months, there has been more and more talk about the creation of new genomic centers and the genetic certification of the population. nine0003
Now imagine that people got their genetic passports in their hands. What should they do with this information? What should doctors do? A huge number of people will want answers to their questions. The President launched genomic research, but no one seems to have thought about who will then process this information and broadcast it to the masses.

And I see two ways to solve this problem. Either introduce more serious courses in genetics for doctors of all specialties in universities, or introduce the profession of "genetic consultant" so that professionals can appear who can advise doctors themselves. The second is more economically feasible. It will not be necessary to train 200 doctors in genetics, it will be necessary to give them one genetic consultant. nine0025

The second thing that is also very important to consider today is the availability of genetic testing. Anyone today can buy any genetic test up to genome sequencing. But the result of a genetic test can be harmful if a person does not have access to the correct interpretation of the data. How will a person feel if they receive a result that reflects a mutation that leads to an increased risk of developing cancer or schizophrenia? Without a proper interpretation of this fact, a person may fall into a depressive state or psychosomatic realization of this disease. That is why we need genetic consultants who will put everything on the shelves so as not to discredit genetic research. nine0003

In addition, the availability of consultants will reduce the number of unnecessary tests and increase the number of targeted genetic tests . Counseling will allow not to entertain the people with genetic tests, turning them into a kind of astrology, but to develop the market for genetic research.

Authors:

Ani Grachikovna Gazoyan