Health and family planning are deeply personal. Above all, everyone wants the best for their child.
Because health is so vital, it can be worrisome. Whether you know a genetic disease runs in your family, are already a parent, or simply wonder about your health, genetic disorders are part of the equation. Today, you have many options for learning about your genetic profile. We believe that knowledge is power. However, misinformation is prevalent, too.
To dispel some myths and provide accurate information, we talked with genetic counselor Estie Rose, MS, LCGC. Rose is also an outreach coordinator with JScreen, a national nonprofit organization that offers at-home genetic screening and education about genetic diseases and cancer risk. She has also served as instructor at the Albert Einstein College of Medicine and was an integral part of its Program for Jewish Genetic Health.
How Common Is It to Be a Carrier of a Genetic Disorder?
Most genetic diseases, including Gaucher disease, are classified as “rare” disorders. According to the National Organization for Rare Disorders (NORD), researchers have identified more than 7,000 rare diseases. But millions of people have a so-called rare disease. Many more people are carriers.
What is a carrier of a genetic disorder?
There are many types of genetic diseases, which are mainly inherited in two different ways. Therefore, the term “carrier” has a different meaning depending on the type of disease. In all cases, a “carrier” has one copy of a specific genetic change (mutation).
Some genetic conditions have dominant inheritance, where having one copy of a specific genetic mutation can cause disease. Carriers of a dominant mutation may experience symptoms at some point in their lives and can also pass the mutation on to their children.
Other genetic conditions, such as Gaucher disease, have recessive inheritance, which requires two copies of a gene mutation to cause disease. This means that for someone who is affected with a recessive disease, one copy of a gene mutation is inherited from the mother and one copy of a gene mutation is inherited from the father.
Carriers of recessive diseases generally do not have symptoms and, therefore, most often do not know they are carriers without genetic screening. But carriers can pass the genetic mutation onto their children. If both parents are carriers for the same recessive disease, their children are at risk of inheriting both copies of the mutation and therefore developing the disease. Learn more about the inheritance and genetics of conditions like Gaucher disease.
What Is Genetic Carrier Screening?
Carrier screening is the standard genetic screening done during family planning. Using a simple saliva or blood sample, the genetic test ‘screens’ your genetic makeup. The results will tell you if you have one or more gene mutations that could be passed down to your offspring. Most people are carriers for at least one disease and, if your results indicate a positive carrier status, carrier screening for your partner is recommended.
Many genetic testing panels are available, often specially designed for whole populations of people. For example, different ethnic populations, such as Ashkenazi (Eastern European) Jews, often have a higher prevalence of specific genetic diseases.
An organization like JScreen provides at-home genetic carrier screening to anyone planning for a family and helps and help individuals determine whether they are carriers of any conditions. The results of the screening are delivered through their telehealth genetic counseling services.
In rare cases, a carrier screening test might reveal that you are at risk for symptoms yourself. In terms of Gaucher disease, for example, Rose says, “Once in a while, we will find people who have two mutations and could be at-risk for Gaucher symptoms themselves.” (A person with two mutations has Gaucher disease, but not all people with the disease experience signs or symptoms.) “We let them know that, so they can seek out appropriate care.”
9 Myths About Genetic Disease Screening
Unfortunately, misinformation and misunderstandings are common when it comes to genetic screening. We talked with Rose about some of the myths she encounters regularly.
1. Myth: You only need carrier screening if you are Jewish—or Ashkenazi Jewish.
Fact: While everyone is at risk of carrying genetic diseases, testing is especially important for people with a higher risk level. That includes Ashkenazi Jewish people, who have a high likelihood of having the mutation that causes type 1 Gaucher disease.
It is important that anyone planning to have a child uses a broad testing panel, not one that specifies by ethnicity. This is because many people have aspects of their ethnic background that they aren’t aware of. Furthermore, we may miss carriers if we rely on their reported ancestries to inform which test to perform.
Genetic risk is based on your genes and not your actions. Genetic mutations are encoded in your DNA, which reflects where your ancestors came from, not what faith you observe.
2. Myth: You don’t need testing if your partner isn’t Jewish.
Fact: As noted above, you still could be a carrier of a genetic disorder, or have the disorder yourself, no matter your background or your partner’s background. In terms of Gaucher, you might have a higher risk of having a child with a mutation that causes type 2 or type 3 Gaucher disease. These types involve neurological symptoms that can be severe. The risk is higher because those mutations are more common in non-Ashkenazi individuals.
3. Myth: Your doctor will tell you if you need screening.
Fact: The American College of Obstetricians and Gynecologists (ACOG) provides guidelines for prenatal carrier screening. “But many doctors can’t keep up with the latest on every condition,” points out Rose. “Safeguarding your health is ultimately up to you.”
Many doctors will ask if you have Ashkenazi heritage and order genetic screening if you do. But because anyone is at risk, it’s wise for everyone to get screening when you are ready to start having children, regardless of ancestry.
4. Myth: Testing with an ancestry service gives you similar results to medical genetic screening.
Fact: Some people take at-home genetic tests like 23andMe and AncestryDNA. These tests are acceptable when it comes to learning about ancestry, Rose says, but when it comes to health-related genetics, “They can provide false reassurance because they test for so few diseases using outdated testing methods.”
Because so many conditions aren’t tested, you could have a gene variant that doesn’t appear in the service’s limited test. That could lead to thinking you are “safe” from that condition, when in fact you are a carrier. As a result, Rose is concerned that these tests can have personal and reproductive health repercussions.
Instead, Rose urges readers to pursue a clinical-grade test that includes genetic counseling. Genetic counselors are trained to read and interpret genetic test results accurately. You can still get a clinical test even if you’ve previously done 23andMe or a similar test. Read more about what you should know about at-home genetic and ancestry testing kits.
5. Myth: Getting genetic testing once tells you all you need to know for the rest of your life.
Fact: It’s a great idea to have genetic testing at a young age, such as during college, so you are aware of any risks before starting your family. But you may not know that it also makes sense to be retested later in life, at any point when you plan to have children (or add to your family).
“Many people think that if they got tested when they started having kids, they are good to go, but genetics is a fast-paced world,” Rose says. “Scientists are constantly learning more about the genetic basis of disease, and labs are adding new conditions to their testing panels, so the testing you have had in the past is likely to become outdated. Anytime you’re planning for a pregnancy, it’s always a good idea to get retested with the most up-to-date test.”
6. Myth: You should get your children tested when they’re young.
Fact: Infants and young children might have genetic testing if they have symptoms of a disease or determine which mutation causes a condition like Gaucher disease. But doctors don’t typically screen children to find out if they are disease carriers, since the results have no impact on their health and are only significant when planning for a child.
Reproductive or prenatal genetic screening is suited to people who are past puberty. It makes sense to talk with your children and their doctor about carrier screening as part of the transition from pediatrics to adult care.
The best time for you to get carrier screening depends on your personal needs, background, family plans, faith, and cultural norms. But one recommendation that applies to everyone is that it is ideal to seek screening before becoming pregnant. “You do have more options before a pregnancy than if you are already pregnant,” Rose explains. “It’s better to be screened during pregnancy than not at all—but the very best is to have screening earlier.”
7. Myth: There’s no point in testing because you can’t do anything about it.
Fact: Rose vigorously disagrees with this point. It’s true that you can’t change your genes. And without a doubt, she acknowledges the anxiety involved in testing.
For those who have already started their families, “It can be an emotional burden on parents to know you’ve been passing things down to your kids,” she says. But you can take comfort in knowing that you could be protecting your grandchildren from the same risk.
“A lot of people don’t know that genetic conditions are being passed through their families,” Rose explains. “Being a carrier can be a surprise. But most of my patients who receive positive results are still happy and grateful they did the test, because they now have this information and can use it to plan for their future.”
And for people who undergo carrier screening before having children, knowing their carrier status means they can make informed decisions about how to expand their families.
8. Myth: Finding out you’re a carrier couple for a disease means you can’t have children.
Fact: The great news for people who are both carriers for Gaucher disease is that they have options. Should they decide to have children together, there are excellent treatments for affected children. The most common form of Gaucher disease in the US, type 1, has effective, FDA-approved enzyme replacement therapy (ERT) treatments. Some adults benefit from substrate reduction therapy (SRT). Scientists are engaged in ongoing research into other treatments and gene therapies.
Your genetic counselor and OB-GYN can also talk with you about many other options for your family. Your choices may include in vitro fertilization (IVF) and preimplantation genetic testing (PGT) to transfer only embryos without the disease that concerns you. Read more about Gaucher disease and reproductive health.
9. Myth: Genetic testing means you can’t get insurance.
Fact: Many people worry that genetic testing will prevent them from having access to health insurance or medical care. The reality is nuanced.
In 2009, U.S. lawmakers passed the Genetic Information Nondiscrimination Act (GINA). This law bars health insurers from using genetic information in a way that affects your:
- Health insurance access, including your eligibility for coverage
- Health insurance premiums or other payments—you pay the same as anyone else
- Employment, including hiring, firing, and promotion decisions
GINA applies to genetic results that affect you personally, such as finding out you have a genetic condition, or are at risk of developing a disease in the future. Carrier status does not impact your insurance or employment eligibility. However, if you are positive for a disease (not just a carrier), it can affect your ability to purchase long-term care, disability, or life insurance. These types of insurers may charge higher rates for coverage or refuse to cover you. That can cause financial stress and have implications for your health.
“We caution people to have insurance in place before they have a personal health test that could reveal a condition such as a predisposition to cancer or heart disease,” says Rose. “The risk is lower with carrier screening, but occasionally, someone will learn about an undiagnosed condition, such as Gaucher disease, that we are screening for.”
How to Share Your Genetic Test Results with Friends and Loved Ones
As people mature, they enter into friendships and dating relationships. What’s the right amount to disclose and when? Your health information is yours to share as you wish. When and how you decide to share will depend on your background and personal values.
“We do see a lot of acceptance in the community,” says Rose. “Everyone has something in their family. There’s no perfect family, whether related to health or non-health issues.”
Among most Orthodox Jewish communities, genetic screening is a routine part of planning to marry, Rose says. “In this community, just like it is typical to create a wedding registry, having genetic testing before marriage is also pretty standard.” Some Orthodox Jewish communities screen individuals before they begin dating, as dating leads quickly to marriage. Non-Jewish or less observant communities may not have any tradition around screening.
All of these factors come into play when disclosing that you have a genetic condition or are a carrier for a disorder like Gaucher disease. In general, Rose explains, people might share:
- When planning to marry: If you will have a short dating process, “in my experience I have found that the sooner you disclose things, the better,” Rose advises. “When people wait until later in the relationship to let their partner know about a health concern, it often does not go well. Hiding important things from one’s significant other is generally not good for a relationship.”
- When dating without expectations: You may not need to disclose information right away. If things get serious, you can share. If you have Gaucher disease, however, you may need to share sooner. As Rose puts it, “It’s not easy to hide going for enzyme replacement therapy every two weeks. I would recommend people tell their significant others what’s going on in their lives.”
- In other relationships: You may opt to share health news with close friends so they can understand and support you. Family may wish to know so they can consider their own testing.
- On the job: There’s no reason to share health information at work unless your health affects your ability to do your job. Even then, it’s an individual choice to disclose. But you might be eligible for accommodations under the Americans with Disabilities Act (ADA).
Accessing Genetic Screening
Your doctor may refer you for screening if you are considering having a baby, or you may seek out testing yourself. “Prenatal and reproductive genetic screening is primarily for those planning a family, not to diagnose a condition,” Rose explains.
For that reason, most people who get screened are ages 18 to 45, but someone over 45 who is still having children could also have screening, she says. Learn more about testing for Gaucher disease.
Is Genetic Screening Covered by Insurance?
Health insurance providers generally—but not always—cover genetic screening for reproductive purposes. If your insurer doesn’t cover it, it can cost thousands of dollars. In that case, at-home screening by programs like JScreen or Invitae look for more than 200 conditions at a more affordable cost. Most states still require a screening order from your doctor, even if the testing is not done in the office.
“JScreen’s testing is done in a way that is accessible to the community and very affordable,” Rose adds. “In-person genetic counseling and testing is not available everywhere, especially in more rural areas. At JScreen, we do all our counseling through telehealth, which means anybody in the country can do the test, which is especially convenient for those who otherwise might not have access to a genetic counselor.”
The Importance of Genetic Counseling
Like a test from a genetics lab in your community, Invitae and JScreen both offer counseling after you receive your results. The genetic counselor reviews your results and makes sure you understand what they mean for you.
“I have found that people appreciate that knowledge is power,” Rose added. “Whatever is in your genes is already there. I firmly believe that it’s better to be prepared and plan than to not know.”
Find out more about prenatal screening and genetic counseling for Gaucher disease.
How the National Gaucher Foundation Can Help
If genetic testing reveals that you or your child has Gaucher disease, the National Gaucher Foundation is here for you as a resource. We can help you navigate finding a Gaucher specialist and connecting to other valuable resources to optimize your health with Gaucher disease and connect you with the support you need.