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Unlocking A Family's Risk A young Jewish couple in their early 30s visits a genetic counselor to assess their risk for passing on a genetic disease to possible future children. The counselor explains that they can both be tested to see if either one is a carrier of a gene for a disease common to their ancestry. Only if both individuals are carriers can the diseases be passed. After the counselor describes the screening and thoroughly reviews the conditions that may be passed, the couple decides to have the tests performed. A woman, age 30, visits a genetic counselor after being referred by her obstetrician. She had a Triple Screening performed at 18 weeks gestation and the results showed that her unborn baby has an increased chance of having Down syndrome, a condition caused by having an extra chromosome. The genetic counselor explains to her that at age 30, she has a 1 in 952 chance of having a baby with the condition. The Triple Screen, however, indicates that her chance is now 1 in 100. The next step is to choose whether or not to have amniocentesis performed, a test that would confirm or rule out this possible condition. The woman decides to go home and discuss the situation with her family. For most couples planning to have a baby, there is a certain amount of speculation and curiosity about the sex of the infant and whom he or she will resemble in looks and personality. Beyond these issues, all couples hope to bring a healthy and thriving baby into the world. Modern science has helped us to understand how certain inherited disorders, birth defects or medical conditions can occur. Genetic counseling provides individuals and families with information and support regarding actual or potential inherited conditions. Through genetic counseling, the risk of certain conditions occurring in a family are explained, with genetic counselors providing information, support and access to community resources and services. When to Seek Counseling For any family, the decision of whether or not to learn if a certain condition is in their gene pool can be fraught with concern. "Genetic counseling is all about patient autonomy and helping individuals to make an informed decision," says Jill M. Fischer, M.S., board-certified genetic counselor and Preimplantation Genetic Diagnosis Program Coordinator for The Institute for Reproductive Medicine and Science of Saint Barnabas Medical Center. "Some people want the screening and others are comfortable just knowing their chances. If someone is trying to decide whether or not to have testing performed, the main questions that I ask the person to ask themselves are, 'How do I feel about the risk?' and 'Do I want to know if the baby has this condition?' and 'How would I feel if I had a baby with this condition?'" Anyone who has unanswered questions about a condition in his or her family should consider genetic counseling, says Ms. Fischer. Genetic counseling could be especially beneficial in the following instances:
During a genetic counseling appointment, the genetic counselor asks the individual or couple a series of questions about family and medical history. When gathering the family history, the counselor asks about relatives with mental retardation, mental illness, learning disabilities, behavioral disorders (such as Attention-Deficit Hyperactivity Disorder), vision or hearing problems, seizures or neurological problems, blood disorders, malformations of the heart, neural tube defects, muscle disorders, issues with the skeletal system such as curved spine or brittle bones, kidney disorders, infertility, miscarriages, clefting (such as a cleft lip), skin disorders and married individuals who are related by blood. The counselor may offer tests to diagnose a problem, including blood tests, physical exams or prenatal testing. Evaluation of test results is coordinated between the genetic counselor,the individual or couple, and their physician. "The information in the family history is only as good as the person providing it," relates Ms. Fisher. "Sometimes an individual knows that a family member has a condition and other times it is just a suspicion. There are also many people who are unsure of what qualifies as a genetic condition." Assessing Risk One of the most important parts of a genetic counselor's job is to help explain to individuals what level of risk pertains to their particular situation. A screening does not tell an individual that his or her offspring will automatically have a condition; it gives a percentage that indicates the level of inherent risk. In addition, testing can be done for only those genetic mutations or "genetic misspellings" that have been identified. For example, there are over 800 genetic misspellings that can result in cystic fibrosis, but only 87 of those misspellings can currently be identified through screening. For genetic counselors, emphasis is placed on helping patients to cope with the emotional impact of genetic conditions in their families. While genetic counselors may suggest testing considerations, they do not endorse a particular course of action or treatment. "These decisions are made by the individual or family," says Ms. Fischer. "The counselor acts as liaison between the individual, their physician and the laboratory by helping to explain some very complicated issues." COMMON INHERITED CONDITIONS Some common inherited conditions in the United States are cystic fibrosis (found most in those of Caucasian, Northern European decent); Tay-Sachs disease (found most in those of Jewish decent); thalassemia (the alpha form found most in those of Asian decent and the beta form found most in those of Mediterranean decent); and sickle-cell anemia (occurring most in African-Americans). Cystic fibrosis (CF) is an inherited disorder that affects many functions of the body: breathing, digestion and reproduction. Tay-Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. The thalassemias are a diverse group of genetic blood diseases that result in anemia of varying degrees. Sickle cell anemia is an inherited blood disorder where sickle-shaped cells block small blood vessels, causing less blood to circulate throughout the body; it eventually causes tissue damage. For more information about genetic counseling at The Institute for Reproductive Medicine and Science of Saint Barnabas Medical Center, please call (973) 322-8286. To reach the Jewish Genetics Disease Program at Saint Barnabas Ambulatory Care Center, please call (973) 322-7020. [ top ] |
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