URL of this page: https://medlineplus.gov/genetics/understanding/testing/uses/
Show Genetic testing can provide information about a person's genetic background. The uses of genetic testing include: Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in the United States. The U.S. Health Services and Resource Administration recommends that states screen for a set of 35 conditions, which many states exceed. Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder. Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition. Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them make decisions about a pregnancy. It cannot identify all possible inherited disorders and birth defects, however. Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques (ART) such as in-vitro fertilization (IVF). In-vitro fertilization involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy. Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person’s risk of developing a specific disorder and help with making decisions about medical care. Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity). Learn how to cite this page Preimplantation genetic diagnosis (PGD) identifies genetic abnormalities in preimplantation embryos prior to embryo transfer, so only unaffected embryos established from in vitro fertilization (IVF) are transferred. From: Genetic Steroid Disorders, 2014
In April 2008, Dartmouth College ethics professor Ronald M. Green's essay, "Building Baby from the Genes Up," was published in the Washington Post. Green presented his case in support of the genetic engineering of embryos, arguing that tinkering with genes could eliminate disease or confer desirable features onto our future progeny. "Why not improve our genome?" he asked. Two days later, Richard Hayes, executive director of the Center for Genetics and Society, rebutted, warning of a "neo-eugenic future" and "the danger of genetic misuse." These practically polar opposite opinions are two sides of a debate taking place around the world. The controversy revolves around what scientists are calling reprogenetics: the combined use of reproductive and genetic technologies to select, and someday even genetically modify, embryos before implantation—not for health reasons, but for the sake of "improvement."
Reprogenetics and Preimplantation Genetic Diagnosis (PGD)
 Can we define a perfect baby? Everyone has a different idea of a perfect baby. Consequently, questions about how to regulate PGD raise complex issues about the definition of embryo "improvement." Reprogenetics is an offshoot of an established medical procedure called preimplantation genetic diagnosis (PGD). Also known as embryo screening, PGD allows couples at risk of transmitting a genetic disease to ensure their future children are unaffected by the disease without going through the process of prenatal diagnosis (i.e., testing of fetal tissue for the presence of disease genes) and being forced to make the difficult decision regarding pregnancy termination. Basically, PGD involves extracting a single cell from an eight-cell embryo (created via in vitro fertilization) and analyzing the DNA of that single cell for the presence of one or more disease-associated genetic alterations. Then, only those embryos without the disease mutation are implanted in the mother's uterus.Introduced into clinical care in the early 1990s, PGD was first used for determining the sex of embryos to minimize the likelihood of transmitting fatal sex-linked disease genes to offspring. If there were a family history of Duchenne muscular dystrophy (DMD), for example, parents might choose to undergo embryo screening to identify female versus male embryos and then have only the female embryos implanted. (DMD is a recessive X-linked disease that affects mostly males.) Since the 1990s, clinical use of PGD has expanded from embryo sexing to single-gene diagnostic testing, such as for Huntington's disease. Today, reproductive clinicians regularly use PGD to diagnose some 170 different conditions, with two of the more common being cystic fibrosis and hemoglobin disorders (e.g., Cooley's anemia). A third and more controversial use of PGD involves screening for chromosomally abnormal embryos in an effort to improve the relatively low pregnancy rates and decrease the relatively high miscarriage rates associated with in vitro fertilization procedures (which are often due to chromosomal abnormalities). While some experts have gone so far as to suggest that this type of PGD should be routine for in vitro fertilization procedures because it increases their success rate, others warn that data have yet to show that PGD actually improves pregnancy rates or decreases miscarriage rates following in vitro fertilization (Kuliev & Verlinksy, 2003; Gleicher et al., 2008). The latter group argues that the use of PGD for chromosomal screening is still "experimental."
Screening Embryos to Eliminate Risk for a Single Disease
Most recently, and even more controversially, at least two British couples have relied on PGD to screen embryos for the presence of BRCA mutations associated with increased risks of breast cancer. Both couples came from families that had suffered several generations of breast cancer, and both couples wanted to eradicate breast cancer from their lineage once and for all. In Britain, all PGD procedures must be approved by a formal regulatory agency, the Human Fertilisation and Embryology Authority (HFEA), and these cases initially stumped the HFEA. Debate among HFEA members centered around the fact that testing positive for the BRCA1 or BRCA2 variant associated with breast cancer means only that an individual is at risk for developing breast cancer. Not all embryos with breast cancer-associated BRCA mutations necessarily develop breast cancer as adults. Moreover, most individuals who eventually develop breast cancer have 40 or 50 years of healthy life before becoming ill. After lengthy deliberation, the HFEA finally approved the couples' requests. Professor Green alluded to the HFEA's decision in his Washington Post article. "To its critics, the HFEA, in approving this request, crossed a bright line separating legitimate medical genetics from the quest for ‘the perfect baby,'" he remarked. "Like it or not, that decision is a sign of things to come—and not necessarily a bad sign." It is not a bad sign, Green argues, because "knowing more about our genes may actually increase our freedom by helping us understand the biological obstacles—and opportunities—we have to work with." Green foresees a day when our scientific understanding of the genetics of obesity, for example, will be so advanced and our technology so sophisticated that, "eventually, without discarding embryos at all, we could use gene-targeting techniques to tweak fetal DNA sequences. No child would have to face a lifetime of dieting or experience the health and cosmetic problems associated with obesity. The same is true for cognitive problems such as dyslexia. Geneticists have already identified some of the mutations that contribute to this disorder. Why should a child struggle with reading difficulties when we could alter the genes responsible for the problem?" Many scientists are doubtful that a day like this will ever come, given that most human traits are influenced by multiple genes interacting not just with each other, but also with the environment. Just as not all embryos with breast cancer-associated BRCA mutations will necessarily develop breast cancer as adults, embryos with altered genes may not necessarily develop the desired traits. The journey from embryo to adult is extraordinarily complex and impossible to predict.
What do you think?
But suppose science surprises us and that day does arrive. Green argues, "[T]he critics' concerns may be less troublesome than they appear." He insists that parents will not love their children any less in the quest for perfection, and children will not feel pressured to live up to perfectionist expectations; if they do, the problem is with the parenting, not the genetic manipulation. While Green concedes that certain social effects might be worrisome, such as the production of a "genobility," or a ruling genetic class, he also sees PGD as a tool for reducing the class divide by "genetically vaccinating" individuals against potential hardships like obesity and dyslexia. Dr. Hayes vehemently disagrees, arguing that while the technology of PGD has the potential to eliminate many horrible diseases, it could also do some real harm: "If misapplied, [these technologies] would exacerbate existing inequalities and reinforce existing modes of discrimination. . .the development and commercial marketing of human genetic modification would likely spark a techno-eugenic rat-race. Even parents opposed to manipulating their children's genes would feel compelled to participate in this race, lest their offspring be left behind." Will all couples, regardless of their fertility issues, go the arduous route of PGD? How will they decide what to do when the likelihood of the "perfect baby" is pitted against the financial and emotional cost involved? Hayes points to Green's own cited statistic—that 80% of Green's students indicated in a survey that society should not move in the direction of human genetic engineering, a figure in agreement with public opinion polls on the subject. Hayes writes, "[Green] would be wise to listen to what medical students, the great majority of Americans, and the international community appear to be saying. . .[W]e don't want to run the huge risks to the human community." What do you think these risks are?
Gleicher, N., et al. Preimplantation genetic screening: "Established" and ready for prime time? Fertility and Sterility 89, 780–788 (2008) Green, R. M. Building baby from the genes up. Washington Post. http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103330.html (April 13, 2008) Hayes, R. Genetically modified humans? No thanks. Washington Post. http://www.washingtonpost.com/wp-dyn/content/article/2008/04/15/AR2008041501620.html (April 15, 2008) Kuliev, A. & Verlinsky, Y. The role of preimplantation genetic diagnosis in women of advanced reproductive age. Current Opinion in Obstetrics and Gynecology 15, 233–238 (2003) |
What technique can be used to detect genetic defects in early stage embryos prior to implantation?
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