Fda Recently Said They Could Tell You About Genetic Disease Risks Again

Hash out the results of genetic prenatal screening tests with a genetic counselor or other health care provider.

Appointment Issued: April xix, 2022

The U.S. Nutrient and Drug Administration (FDA) is alarm patients and health care providers most the risks of imitation results with genetic non-invasive prenatal screening (NIPS) tests, sometimes chosen noninvasive prenatal testing or tests (NIPT). Results from NIPS tests tin can provide data about the possibility of a fetus having certain genetic abnormalities that could upshot in a child being born with a serious health condition.

While health care providers widely use NIPS tests, none have yet been authorized, cleared, or approved past the FDA. The accuracy and performance of NIPS tests have not been evaluated by the FDA and these tests tin can give false results, such equally reporting a genetic abnormality when the fetus does not really have ane. NIPS tests are screening tests, which means the NIPS test may simply tell you the run a risk of the fetus having sure genetic abnormalities. They are not diagnostic tests, which are generally used to more definitively confirm or rule out a suspected genetic aberration.

The FDA is aware of reports that patients and health care providers take made critical health intendance decisions based on results from these screening tests alone and without additional confirmatory testing. Specifically, significant people have ended pregnancies based merely on the results of NIPS tests. Without confirming the results with a diagnostic test, in that location is no style to know whether the fetus actually had the genetic abnormality reported past the screening test. The FDA is aware of cases where a screening test reported a genetic abnormality and a confirmatory diagnostic test subsequently found that the fetus was healthy.

Given the increased use of these tests and concerns raised in recent media reports, the FDA is providing this information to brainwash patients and health care providers and to assistance reduce the inappropriate use of NIPS tests. The FDA recommends that patients discuss the benefits and risks of NIPS tests with a genetic advisor or other health care provider before deciding to become these tests. Patients should too discuss the results of NIPS tests with a genetic counselor or other wellness care provider before making any decisions about their pregnancy. Health care providers should be aware of the risks and limitations of using these screening tests and should not use the results from these tests lone to diagnose chromosomal (genetic) abnormalities or disorders.

Recommendations for Patients

• Talk with a genetic counselor or other health care provider before deciding to accept prenatal testing and to discuss which tests to utilise, including genetic screening tests such as NIPS tests. Genetic counselors and other health care providers tin help you sympathize the benefits and risks of these tests.
• Do not use the results of screening tests such as NIPS tests alone to make decisions near your pregnancy because the results of these tests may not accurately reflect whether your fetus has a genetic abnormality. Additional testing may require invasive procedures to obtain a sample, such as amniocentesis or chorionic villous sampling (CVS), which carry a minor risk of miscarriage. The diagnostic confirmatory tests performed on these samples may not have been reviewed by the FDA.
• Discuss the results of genetic prenatal screening tests and what the results may mean with a genetic counselor or other health care provider. They can assistance you lot decide whether to get additional testing to confirm results from a screening exam.
  • A positive screening exam result means that the fetus has a college gamble of having a genetic abnormality compared with the average risk. Information technology does not hateful that the fetus definitively has a genetic abnormality, or a condition caused by a genetic aberration.
  • A negative screening test result means that the fetus has a lower chance of having a genetic abnormality compared with the average take a chance. It does non rule out the possibility that the fetus has a genetic abnormality, or a condition caused by a genetic abnormality.
  • The power of a NIPS test to correctly tell whether a fetus is at risk for a genetic abnormality depends on how common or rare the genetic abnormality is and on underlying risk factors. Disorders caused by a microdeletion (small missing piece of a chromosome) are rare. Because these atmospheric condition are so rare, a positive outcome may be more probable to be from a healthy fetus than 1 that really has the reported genetic aberration.

Recommendations for Health Intendance Providers

• Review the Recommendations for Patients with your pregnant patients.
• In add-on to technical bug, multiple biological factors can influence NIPS results. For instance, in some cases, a positive NIPS test result may accurately detect a chromosomal abnormality, but that abnormality is in the placenta and not in the fetus. In these cases, the fetus may exist healthy. Additional confirmatory diagnostic tests should be performed to decide whether or not the fetus is affected.
• Discuss with your patients the benefits and risks of prenatal tests, including genetic screening tests such as NIPS tests.
• Exercise non utilise the results of screening tests such as NIPS tests alone to diagnose chromosomal abnormalities or disorders.
• Ensure your patients receive the appropriate follow-up testing and care, including genetic counseling, as needed.

Test Clarification and Background

Noninvasive prenatal screening (NIPS) tests analyze modest fragments of fetal Deoxyribonucleic acid, chosen jail cell-costless DNA, that are circulating in a meaning person'south blood with the goal of determining the risk that the fetus has sure genetic abnormalities. When used appropriately, these tests offering a not-invasive approach for prenatal screening and may provide useful information to assess the hazard that a fetus has (or does not have) a genetic abnormality. Information technology is important for patients and health care providers to exist aware that these are screening tests, non diagnostic tests, and to understand the benefits, risks, and limitations of these tests.

Many laboratories that offer these tests claim the tests are "reliable" and "highly accurate," offering "peace of mind" for patients. The FDA is concerned that these claims may not be supported with audio scientific evidence. False claims may cause patients equally well as health care providers to believe the test results are reliable and can be used lonely to make decisions about the pregnancy. In improver, because some of the genetic abnormalities and disorders are so rare, in cases such as detection of a microdeletion, there may be a high take chances that a positive result is really from a fetus that does not accept the genetic abnormality reported by the examination.

The NIPS tests currently existence offered are marketed every bit laboratory adult tests (LDTs). About LDTs, including NIPS tests, are offered without FDA review. While LDTs are medical devices nether the Federal Food, Drug, and Cosmetic Act, the FDA has had a general policy of enforcement discretion for most LDTs since the Medical Device Amendments were enacted in 1976. That means that FDA does not generally enforce applicable regulatory requirements for most LDTs. The FDA is continuing to work with Congress on legislation to establish a modernistic regulatory framework for all tests, including LDTs.

Additional Data for Wellness Intendance Providers

The FDA recommends that health care providers besides be enlightened of the positions of relevant professional societies, including the American Higher of Obstetricians and Gynecologists (ACOG), the Society for Maternal-Fetal Medicine (SMFM), and the American College of Medical Genetics and Genomics (ACMG):

• These medical professional societies recommend that prenatal genetic screening should be discussed and offered to all patients regardless of their age or risk for a chromosomal aberration.
• Patient education is emphasized in club to back up informed decision making about whether to accept or turn down screening. Emphasis is placed on education surrounding the positive predictive value of NIPS tests and the appropriate use of cell-gratuitous Deoxyribonucleic acid tests as screening and not diagnostic tests.
• ACMG specifically recommends against testing for aneuploidies (missing or extra chromosomes) other than those involving chromosomes related to Down syndrome (21), Edwards syndrome (18) and Patau syndrome (thirteen).
• ACOG does not recommend the utilise of NIPS tests to detect microdeletions.

Published studies also strongly back up the importance of performing confirmatory diagnostic testing to determine whether or not the fetus truly has a chromosomal abnormality following a positive screening test event. The scientific literature related to the employ of NIPS tests from laboratories, including 25 peer-reviewed publications covering xiii studies evaluating more than 10,000 individuals undergoing NIPS, indicates that the NIPS tests evaluated generally perform well for ruling out disorders caused by chromosomal abnormalities. The scientific literature generally study high negative predictive values, greater than 99.9% when calculated, for the NIPS tests studied. This ways that the fetus is very likely not to take a chromosomal abnormality if the exam returns a negative result. Withal, the literature confirms that the reliability of positive screening results is limited, particularly for microdeletions. Reliability of positive screening results in these studies was best for Down syndrome, with a positive predictive value of about xc%, meaning that one in ten positive results are not confirmed as Downwards syndrome. However, reliability of positive screening results was far lower for microdeletions, with the positive predictive value ranging from almost 2% to 30%, depending on the condition. For example, Di George syndrome, which is caused by a microdeletion on chromosome 22, showed a positive predictive value of about 30%. This means that, out of 10 patients receiving a positive result for Di George syndrome on a screening test, it is not confirmed in 7 of those patients when diagnostic testing is performed with CVS or amniocentesis.

FDA Actions

The FDA is informing the public of the risks related to the use of genetic prenatal screening and the potential damage if NIPS test results are not used and interpreted appropriately.

The FDA encourages test developers to provide accurate, articulate, and complete information virtually the functioning of their tests, how they should be used, and what the results may or may not mean. The FDA also encourages test developers to work with the FDA toward authority, clearance, or approving of their tests.

The FDA will go on to closely monitor condom issues around the use of NIPS tests and is committed to protecting public wellness. The FDA will continue the public informed if significant new information becomes available.

Reporting Bug with Your Device

If you recall y'all had a problem with a not-invasive prenatal screening (NIPS) test, the FDA encourages you lot to report the problem through the MedWatch Voluntary Reporting Form.

Health care personnel employed past facilities that are discipline to the FDA'south user facility reporting requirements should follow the reporting procedures established by their facilities.

Questions?

If you have questions, electronic mail the Division of Industry and Consumer Education (Die) at Dice@FDA.HHS.GOV or call 800-638-2041 or 301-796-7100.

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Source: https://www.fda.gov/medical-devices/safety-communications/genetic-non-invasive-prenatal-screening-tests-may-have-false-results-fda-safety-communication