Illuminating the path to better health through genetic insights - Patient Foresight
If you are pregnant or thinking about it, find out if you and your partner carry inherited conditions that could affect your family.If you are pregnant or thinking about it, find out if you and your partner carry inherited conditions that could affect your family.
The Myriad Foresight Carrier Screen can help determine whether you carry inherited health conditions that you might pass on to a child. Knowing this information before you get pregnant, or early in your pregnancy, can make a difference in your family’s well-being. Our advanced technology allows us to find more than 99% of carriers for the vast majority of conditions we screen for, regardless of ancestry, so you can confidently make informed decisions for your family. DNA contains two copies of every gene — one inherited from each biological parent. These genes sometimes pass on inherited conditions which are caused by changes in genes called mutations. Most people carry at least one mutation in a gene included in the Foresight Carrier Screen. This usually only becomes an issue if both you and your partner have a mutation in one copy of the same gene. When this happens, even though neither of you have any symptoms, there is a 1 in 4 chance for each pregnancy that your child will be affected by the condition associated with the gene. There are a few conditions where only the mother needs to carry a mutation for her children to be at risk of developing symptoms.Individually, inherited conditions are rare, but collectively, the conditions included in the Foresight Carrier Screen affect 1 in 300 pregnancies.Family history doesn’t tell the full story Many of us are carriers of inherited conditions and simply don’t know it. 88% of individuals who are carriers for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome had no known family history.Anyone, regardless of ancestry, can have a baby with an inherited condition. Medical societies now recognize the advantages of offering screening for the same set of diseases to all patients, regardless of ancestry.The Foresight Carrier Screen looks for serious conditions that you could pass on to your child. Some are conditions you may have heard of, such as cystic fibrosis. Some conditions can be treated early, others require lifelong management, and still others have no treatments. All conditions screened are clinically meaningful when you’re planning a pregnancy or expecting a child. Screening helps you plan and prepare. If both you and your partner are carriers of the same condition, there are important steps you can take whether you are planning a pregnancy or already pregnant. Carrier screening is ideally done pre-pregnancy. If you find out you and your partner are both carriers, you have options when it comes to building your family.During the in vitro fertilization process a fertility specialist can look at the genes of several of your embryos and choose only those that will not be affected by the inherited condition to place in your womb. This is called preimplantation genetic testing for monogenic/single gene diseases, or PGT-M.If both prospective parents are carriers for mutations in the same gene, you can greatly reduce the risk of having an affected child by finding an egg or sperm donor that is not a carrier for the same condition. Adoption is another option.Diagnostic tests such as chorionic villus sampling or amniocentesis can determine if an inherited disease was passed on to your child. Whether or not you decide to pursue diagnostic testing, there are options you can discuss with your healthcare provider if you find out you and your partner are both carriers for the same inherited condition.Knowing your child requires a certain type of care before birth means you can involve the right kind of specialist long before delivery. For some inherited conditions, there are treatments that can make a big difference in outcome if they are used early.Depending on what your baby is at risk for, you might want to seek out a specialized facility that is equipped to manage newborns with inherited conditions.You may simply want to talk with one of our genetic counselors or work with a support group to understand what could lie ahead. Myriad Genetics is in-network with most major insurable plans. We also have financial assistance, for those that qualify, and payment plans to help you handle a high deductible if you have one. Hogan et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clinical Chemistry 2018; doi:10.1373/clinchem.2018.286823 Beauchamp KA, Muzzey D, Wong KK, et al. Systematic design and comparison of expanded carrier screening panels. Genetics in Medicine 2017; doi:10.1038/gim.2017.69. Haque IS, et al. Expanded carrier screening of 322,484 individuals: the case for going beyond cystic fibrosis. Eur S Hum Genet. 2015;23:S1. Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests . Genet Med. 2018;20:513-523. doi:10.1038/gim.2017.134 Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol.. 2015;125:653-662.
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