Genetic counseling : A must !

--> Genetic counseling
A communication process where medical experts carry out genetic tests and look at your family history and medical records is known as Genetic counseling. A genetic counseling session can help you understand your personal risk or the risk for other family members, if you have an inherited disease in your family. The aim is to identify the possibility of you passing any genetic disorders to your baby. This complex process can be separated into the actual estimation of risk and supportive aspects.






The process involves an analyis by one or more appropriately trained genetic counselors to help the individual or family to
(i) comprehend the medical facts, including the diagnosis, the probable course of the disorder, and the available management,
(ii) appreciate the way heredity contributes to disorder, and the risk of recurrence in specified relatives,
(iii) understand the options for dealing with the risk of recurrence,
(iv) choose the course of action which seems appropriate to them in view of their risk and the family goals and in accordance with the decision, and
(v) make the best possible adjustment to the disorder in the affected family member or the risk of recurrence of that disorder.

In today's world, genetic counseling goes beyond mere presentations of risk facts and figures to the prevention and cure of disease, the relief of pain and the maintenance of health. For many disorders it is only possible to give precise recurrence risk conditions and also the order of risk, if exensive family studies are available. Moral, ethical and philosophical aspects involved in genetic counselling are now emerging as major issues with the development of the application of various diagnostic techniques as amniocentesis and fetoscopy during pregnancy.

--> As a Genetic Counselor
Genetic counselors are professionals who have completed a master's program in medical genetics and counseling skills. Genetic counselors have studied genetic diseases and how those diseases run in families. The genetic counselor can help a person or family understand their risk for genetic conditions, educate the person or family about that disease, and assess the risk of passing those diseases on to children.

A genetic counselor will often work with families to identify members who are at risk. They will explain the meaning of the medical science involved, provide support, and address any emotional issues raised by the results of the genetic testing.

Genetic counselors must be expert educators, skilled in translating the complex language of genomic medicine into terms that are easy to understand. They 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. They can also refer you to specialists for further help.

--> Common Examples
- A woman, if pregnant, may be referred for genetic counseling if a risk is discovered through prenatal testing. Some clients are notified of having a higher individual risk for chromosomal abnormalities or birth defects. Testing enables women to make the decision whether to continue with their pregnancy or facilitate the earliest opportunity for abortion immediately after their baby is conceived.

- Genetic counseling is also prefered after the birth of a child with a genetic condition. Here, the Genetic counselor will explain the condition to the patient along with recurrence risks in future children. In all cases of a positive family history for a condition, the genetic counselor can evaluate risks, recurrence and explain the condition itself.






--> 5 Phases of Sessions
According to Seymour Kessler, 1979, sessions are met in five phases -

(i) An intake phase and (v) A follow-up phase
The intake and follow-up phases occur outside of the actual counseling session.

(ii) An initial contact phase
The initial contact phase is when the counselor and families meet and build rapport.

(ii) The encounter phase
The encounter phase includes dialogue between the counselor and the client about the nature of screening and diagnostic tests.

(iv) The summary phase
The summary phase provides all the options and decisions available for the next step. If counselees wish to go ahead with testing, an appointment is organized and the genetic counselor acts as the person to communicate the results.

--> The Target
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, sometimes babies have been diagnosed with spina bifida before birth. Recent research suggests that delivering a baby with spina bifida via cesarean section can minimize damage to the spine and reduce the likelihood that the child will need a wheelchair.

Most recommended is that all pregnant women, regardless of age or circumstance, be offered genetic counseling and testing to screen for Down syndrome. Also, most disorders cannot occur unless both the mother and father pass on their genes, such as Cystic Fibrosis.
Some of the other genetic disorders that can be identified through testing are:
- Sickle cell
- Tay-Sachs disease
- Spina bifida.

On the other hand, it is especially important to consider genetic counseling if any of the following risk factors apply to the person :
- a standard prenatal screening test (alpha fetoprotein test) yields an abnormal result
- an amniocentesis yields an unexpected result
- either parent or a close relative has an inherited disease or birth defect
- either parent already has children with birth defects or genetic disorders
- the mother-to-be has had two or more miscarriages or babies that died in infancy
- the mother-to-be will be 35 or older when the baby is born.
- when concerned about genetic defects that occur frequently in certain ethnic or racial groups.






--> Genetic counseling sessions do not include the following :
- Any testing or procedures that you do not explicitly approve. A genetic counselor will carefully explain to you any tests that are possible for your situation. However, they cannot have the test done until you give written consent that you understand and want that particular test. - The genetic counselor can not draw blood or use your DNA or test results without your permission.
- Genetic counselors are not medical doctors and do not write prescriptions.
- A genetic counselor will try to make sure that you fully understand the risks, benefits, and possible consequences of every option that is available to you. However, the genetic counselor will not make medical decisions for you.
- Most genetic counselors are not trained to provide long-term psychological care.

--> Conclusions
Genetic counseling is a practical method of calculating risk figures, intended for information regarding the unborn, and we ought to use it in an efficient manner but in a direction, which our ethics and morality point to. The decision taken by the parents after the counseling session must leave them satisfied instead of placing them in a state of dilemma.

- By Sunil R Yadav

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