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9 Myths About Genetic Disease Carrier Screening

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it comes to health-related genetics, “They can provide false reassurance because they test for so few diseases using outdated testing methods.”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.

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 Expanded carrier screening: What conditions should we screen for?

Carrier screening tests reproductive couples for their risk of having children affected by serious monogenic conditions. Carrier screening has historically been offered for certain conditions in high-risk populations. However, more recent evidence has shown that offering carrier screening to all patients, regardless of their ethnicity, more effectively and equitably identifies at-risk couples. Coupled with technology that enables screening for a nearly unlimited number of conditions, this expanded carrier screening (ECS) approach is now supported by professional society guidelines.

 Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?

When pre-pregnancy carrier screening programs are introduced, they reduce death and disease associated with the screened diseases. They can save families from experiencing the tragedy of a child affected by a significant genetic disease. They also reduce the burden of recessive disease within the population as a whole.

 What’s the Difference Between Genetic Carrier Screening and Ancestry DNA Tests?

When people hear the term “genetic testing,” they often think of Direct-To-Consumer (DTC) genetic testing, which they can order themselves on sites such as ancestry.com or 23andme.com. DTC genetic testing can give you information about your health, ethnic background, and even track down distant relatives. These tests can give a person information about potential susceptibilities or sensitivities, but when interpreted without information about that person’s health history, lifestyle, and family history, these results can be very limited. Information from DTC genetic tests are only a small piece of the puzzle. Genetic carrier screening is different. Carrier screening looks at specific genes that are known to be associated with specific disease.

Articles of Interest

A New Outlook: How Carrier Screening Shaped One Family’s Future

A carrier screen is a genetic test that looks at a couple’s DNA to see if they are carrying any genetic mutations that could be inherited by their baby. If both members of the couple have a mutation in the same gene, there is a 25% chance they could pass the associated condition on to their children.

Carrier Screening for Genetic Disorders

Individuals who have a pathogenic gene variant that causes an autosomal recessive or X-linked disorder (but who often have no clinical findings or symptoms of the disorder) are known as carriers. Carrier screening refers to testing that is performed to determine if an individual is a carrier, assess the risk for the particular disorder in the individual’s offspring, and enable informed reproductive choices.

Carrier Screening: Uncovering The Hidden Code

One in four people is a carrier of a genetic disease. Carrier screening for inherited conditions began in the 1970s for specific conditions within at-risk populations. Now, many conditions are screened for within the general population to identify carriers of inherited conditions, even when there is no family history. Technological advances make it possible to conduct carrier screening for multiple diseases simultaneously and cost-effectively.

Firm Brings Gene Tests to Masses

The company, Counsyl, is selling a test that it says can tell couples whether they are at risk of having children with a range of inherited diseases, including cystic fibrosis, Tay-Sachs, spinal muscular atrophy, sickle cell disease and Pompe disease (the one afflicting the children in the movie). Once informed, Counsyl says, couples can take steps like using in vitro fertilization with genetic testing of the embryos, to avoid bearing children who would have the diseases, many of which are incurable and fatal in childhood.

Genetic Carrier Screening

Carrier screening most commonly looks for autosomal recessive conditions - that is, both parents need to be carriers in order for there to be a 25% risk of fetus being affected.

How to Get Carrier Screening: A Complete Guide

Carrier screening is a genetic test that determines if you carry gene variants that could affect your future children's health. Using a simple saliva sample, this screening can identify if you're a carrier for various inherited conditions, even if you have no family history of genetic disorders.

Lynch Syndrome Is a Common Hereditary Condition That Can Cause Ovarian Cancer—So Why Isn’t Anybody Talking About It?

It’s hard to recall a time before BRCA. In the two decades since testing for the two gene mutations—BRCA1 and BRCA2—linked to breast and ovarian cancers became available, tens of thousands of women whose results came back positive have elected to undergo prophylactic surgery, giving rise to the term previvors.

New Genetic Tests for Women Who Are Expecting

Women expecting a baby or planning a pregnancy are being pitched a fast-growing array of tests to check if they are carriers for hundreds of mostly rare genetic diseases. Such genetic testing, called carrier screening, has long been targeted mainly at people of certain ethnic groups such as Ashkenazi Jews, who are at higher risk for some conditions such as Tay-Sachs disease. Now, companies that offer carrier screening are promoting the idea that testing everyone for many diseases is a more effective way to reduce the number of babies born with serious disorders, including cystic fibrosis, a life-limiting lung condition, and Canavan disease, a fatal neurological disorder.

Prenatal Testing Can Ease Minds Or Heighten Anxieties

In the past, doctors may have screened parents for a few suspect diseases common to their specific ethnicity or family history. But now a growing number of companies offer extensive panels testing for hundreds of rare diseases. "Over the last 10 to 20 years the number of genetic disorders that we are able to test for has exploded," says Dr. Mary Norton, a prenatal geneticist at University of California, San Francisco.

The 10 reasons why everyone should consider genetic carrier screening

Genetic conditions are more common than you may realise – one in four hundred babies that are born are affected by a genetic condition. Some genetic conditions are manageable, but others can have more serious outcomes. Knowing your carrier status before conceiving allows you to understand your risk before you’re pregnant, so you can work through your options.

Why we should be worried about gene-carrier screening

Pre-conception genetic screening (testing for “carrier status” before pregnancy) has usually only been available to couples already known to be at risk of a particular disease. Ashkenazi Jews, for example, are most likely to be carriers of the mutated HEXA gene linked to Tay-Sachs disease, a fatal genetic disorder. Screening for the HEXA mutation is therefore recommended for all Ashkenazi Jews planning children. Today, though, genome sequencing is more affordable and accessible than ever before. It is now (at least, technically) possible to screen everyone to find out if they are a carrier of a genetic disease.

Resources

jscreen

Genetic screening informs proactive health measures, reproductive choices, and personalized healthcare, improving outcomes and quality of life.

jscreen

Genetic screening informs proactive health measures, reproductive choices, and personalized healthcare, improving outcomes and quality of life.

Inheritest®

If you’re pregnant or planning to become pregnant, Inheritest provides useful information about risks for certain genetic disorders and allows you to make informed decisions for a current or future pregnancy and ensure you have access to available treatments. Inheritest is available in a variety of different panels. Click on each of the panels below to view the specific disorders for which each panel screens.

Myriad Genetics

Genetic screening helps most families learn that their pregnancy or their baby is at low risk for a genetic condition. For a few others, genetic screening can help them understand if their baby is at risk for a chromosomal condition or for inheriting a serious health condition.

National Tay-Sachs & Allied Diseases Association

Carrier screening is recommended for anyone planning a pregnancy or who is already pregnant, regardless of their ethnicity or family history of genetic diseases. Ideally, carrier screening should be performed before pregnancy to allow couples to learn about their reproductive risk and explore options available.

American College of Obstetricians and Gynecologists

Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out your chances of having a child with a genetic disorder.