What is Genetic Counselling?
Genetic counseling is the process of:
- evaluating family history and medical records
- ordering genetic tests
- evaluating the results of this investigation
- helping parents understand and reach decisions about what to do next
Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.
Genes are made up of DNA molecules, which are the simplest building blocks of heredity. They're grouped together in specific patterns within a person's chromosomes, forming the unique "blueprint" for every physical and biological characteristic of that person.
Humans have 46 chromosomes, arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent. This newly formed combination of chromosomes then copies itself again and again during fetal growth and development, passing identical genetic information to each new cell in the growing fetus. Current science suggests that human chromosomes carry from 25,000 to 35,000 genes. An error in just one gene (and in some instances, even the alteration of a single piece of DNA) can sometimes be the cause for a serious medical condition.
Genetic tests don't yield easy-to-understand results. They can reveal the presence, absence, or malformation of genes or chromosomes. Deciphering what these complex tests mean is where a genetic counselor comes in.
Who Are Genetic Counselors?
Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.
Genetic counselors work as members of a healthcare team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.
Genetic counselors also provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services. They serve as educators and resource people for other healthcare professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling
Genetic counselors can help identify and interpret the risks of an inherited disorder, explain inheritance patterns, suggest testing, and lay out possible scenarios. (They refer you to a doctor or a laboratory for the actual tests.) They will explain the meaning of the medical science involved, provide support, and address any emotional issues often raised by the results of the genetic testing.
Who Should See One?
Most couples planning a pregnancy or are expecting a child, need genetic counseling. About 3% of babies are born with birth defects each year, according to the U.S. Centers for Disease Control and Prevention - and of the malformations that do occur, the most common are also among the most treatable.
The best time to seek genetic counseling is before becoming pregnant, when a counselor can help assess your risk factors. But even after you become pregnant, a meeting with a genetic counselor can still be helpful. You should consider genetic counseling if any of the following risk factors apply to you:
- if a standard prenatal screening test (such as the alpha fetoprotein test) yields an abnormal result
- if an amniocentesis yields an unexpected result (such as a chromosomal defect in the unborn baby)
- if either parent or a close relative has an inherited disease or birth defect
- if either parent already has children with birth defects or genetic disorders
- if the mother-to-be has had two or more miscarriages or babies that died in infancy
- if the mother-to-be will be 35 or older when the baby is born (Chances of having a child with Down syndrome increase with the mother's age: a 35-year-old woman has a one in 350 chance of conceiving a child with Down syndrome. This chance increases to one in 110 by age 40 and one in 30 by age 45.)
- if parents are concerned about genetic defects that occur frequently in their ethnic or racial group (For example, couples of African descent are most at risk for having a child with sickle cell anemia; couples of central or eastern European Jewish (Ashekenazi), Cajun, or Irish descent may be carriers of Tay-Sachs disease; and couples of Italian, Greek, or Middle Eastern descent may carry the gene for thalassemia, a red blood cell disorder.)
Services Available
Our specialized genetic counsellors can guide and talk to individuals about their future risk of developing diseases, prenatal diagnosis and other reproductive options. A complete privacy of the individuals is maintained in the process. Besides, under any unexpected circumstances, the genetic counsellors are able to support and comfort the family of the affected individuals.
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