Genetic Counseling?

Question

Can anyone shed some light on genetic counseling? Is it expensive, what tests can they do, what is their accuracy? Any info is appreciated.

Answer 1

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.

Some diseases, such as Huntington's disease (a degenerative nerve disease) and Marfan syndrome (a connective tissue disorder), can be inherited from just one parent. Most disorders cannot occur unless both the mother and father pass along the gene. Some of these are cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. Other genetic conditions, such as Down syndrome, are not inherited. In general, they result from an error (mutation) in the cell division process during conception or fetal development. Still others, such as achondroplasia (the most common form of dwarfism), may either be inherited or the result of a genetic mutation.

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.

Genetic counselors are professionals who have completed a master's program in medical genetics and counseling skills. They then pass a certification exam administered by the American Board of 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.

Most couples planning a pregnancy or who are expecting don't 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. Cleft palate and clubfoot, two of the more common birth defects, can be surgically repaired, as can many heart malformations.

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. For example, several babies have been diagnosed with spina bifida before birth. Recent research suggests that delivering a baby with spina bifida via cesarean section (avoiding the trauma of travel through the birth canal) can minimize damage to the baby's spine - and perhaps reduce the likelihood that the child will need a wheelchair.

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.)

Before you meet with a genetic counselor in person, you'll be asked to gather information about your family history. The counselor will want to know of any relatives with genetic disorders, multiple miscarriages, and early or unexplained deaths. The counselor will also want to look over your medical records, including any ultrasounds, prenatal test results, past pregnancies, and medications you may have taken before or during pregnancy.

If more tests are necessary, the counselor will help you set up those appointments and track the paperwork. When the results come in, the counselor will call you with the news. Often, the counselor will encourage you to come in for a discussion.

The counselor will study your records before meeting with you, so you can make the best use of your time together. During your session, he or she will go over any gaps or potential problem areas in your family or medical history. The counselor can then help you understand the inheritance patterns of any potential disorders and help assess your chances of having a child with those disorders.

He or she will distinguish between risks that every pregnancy faces and risks that you personally face. Even if you discover you have a particular problem gene, science can't always predict the severity of the related disease. For instance, a child with cystic fibrosis can have debilitating lung problems or, less commonly, milder respiratory symptoms.


After counseling, you and your family will have to decide what to do next. Genetic counselors help you to understand your options and adjust to the difficulties and uncertainties you face.

If you've learned prior to conception that you and/or your partner are at high risk for having a child with a severe or fatal defect, your options might include:

-pre-implantation diagnosis, which occurs when eggs that have been fertilized in vitro (in a laboratory, outside of the womb) are tested for defects at the 8-cell (blastocyst) stage - and only nonaffected blastocysts are implanted in the uterus to establish a pregnancy
-using donor sperm or donor eggs
-adoption

If you've received a prenatal diagnosis of a severe or fatal defect, your options might include:

-preparing yourself for the challenges you'll face when you have your baby
-fetal surgery to repair the defect before birth (surgery can only be used to treat some defects, such as spina bifida or congenital diaphragmatic hernia, a hole in the diaphragm that can cause severely underdeveloped lungs. Most defects cannot be surgically repaired.)
-ending the pregnancy
For some families, knowing that they'll have an infant with a severe or fatal genetic condition seems too much to bear. Other families are able to adapt to the news - and to the birth - remarkably well.

Genetic counselors can share the experiences they've had with other families in your situation. But they will not suggest a particular course of action. A good genetic counselor understands that what is right for one family may not be right for another.

Genetic counselors can, however, refer you to specialists for further help. For instance, many babies with Down syndrome are born with heart defects. Your counselor might encourage you to meet with a cardiologist to discuss heart surgery, and a neonatologist to discuss the care of a post-operative newborn. Genetic counselors can also refer you to social workers, support groups, or mental health professionals to help you adjust to and prepare for your complex new reality.

Finding a Genetic Counselor

Working with a genetic counselor can be reassuring and informative, especially if you or your partner have known risk factors. Talk to your doctor if you feel you would benefit from genetic counseling. Many doctors have a list of local genetic counselors with whom they work. You can also contact the National Society of Genetic Counselors for more information.

--http://www.kidshealth.org/parent/pregnancy_newborn/medical_problems/genetic_counseling.html

Cost

Genetic counseling without testing cost on average $213, whereas counseling, testing, and disclosure of results totaled $2057. A brief physician-based counseling instead of genetic counselor-based counseling would produce only small reductions in total costs. Providing counseling and testing to the study population averaged $8034 per mutation found. The cost of testing and counseling exceeded $2000. The counseling portion of the cost comprised only 16% of the total cost, with the remainder representing costs associated with testing; thus, alternatives to full genetic counseling that shorten counseling time are unlikely to have a large impact on the overall cost of counseling and testing. The cost of detecting a mutation within a population of women is highly dependent on the prevalence of the mutation in the population.

--http://cebp.aacrjournals.org/cgi/content/full/10/5/475

Not all health plans cover the cost of genetic counseling. Be sure to check with your health plan. The Alliance of Genetic Support Groups 800-336-4363 offers support and information. Your local March of Dimes can help as well.

The cost for a genetic counseling consultation is usually two to three hundred dollars, depending on the hospital, the length of the appointment(s), and the number of visits. The cost of genetic testing for cancer susceptibility ranges from a few hundred dollars to over two thousand dollars. While research studies covering the costs of genetic counseling and genetic testing were common even a few years ago, most programs are no longer completely funded by research and must bill for their services.

Health insurance may or may not cover charges for genetic counseling and genetic testing. Because health insurance plans vary greatly, each individual should check with their plan regarding coverage and if pre-approval is necessary before proceeding with genetic counseling or genetic testing. Some individuals choose to pay for the costs out-of-pocket to avoid involving their health insurance company.

--http://www.lynnsage.northwestern.edu/Site/template/info_gen_cou.html

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Answer 2

The site listed below can actually provide all you want to know about testing and counseling. And labs near you. I've been actually looking into this (My mom has alzheimer's and it's in my family history) From what I know they are very accurate in determining whether you have the specific gene, but it doesn't necessarily mean it will affect you.

Good luck!

Answer 3

Yes, except there is a rare kind of Down syndrome that is inherited. It is carried by a parent who does not have Down syndrome but can pass it to his/her child. But that's rare and most people don't even know they have it.

Answer 4

Maybe this is becoming a fashion! Consider why you need to go for this counselling and see if you can remedy that situation yourself so that you can avoid going for it!

Answer 5

how would one councel one's genes? they do not speak.