September 11, 2004

JUST as harmless characteristic such as curly hairs can run in the families, in the same way, there can be other harmful conditions that can run from one generation into the next. Statistics indicate that each year about 150,000 babies are born with birth defects and one out of every 28 babies born is affected by congenital disorder. This leaves all the parents wondering if their baby will born normal.

It has been found out that both genetic and environmental factors can cause babies to born with genetic diseases. Often it is the combination of both the factors. However, the causes of about 60 to 70 per cent of birth disorder cases are still unknown.

Down Syndrome is one of the serious birth defects that concerns parents especially middle-aged mothers. Women in their 30s and 40s are at highest risk of giving birth to a baby with genetic disorder. Other abnormalities are Turner Syndrome, Klinefelter Syndrome, etc.

Mutation also plays a role in causing genetic diseases. An interesting instance of a mutation is the one that causes “sickle cell anemia” in which red blood cells turn into a sickle-shaped cells. As a result, it becomes hard for the blood to flow smoothly. Despite advance treatment available, many patients still die of this disease.

Recently, researchers have provided guidelines to inform and educate the individuals and parents about preventative measures that can minimalize the margin of birth defect occurrences. There are a number and variety of tests available such as blood tests, urine tests, monthly examinations and family history forms along with the option of genetic testing. These tests help to identify the transfer of certain genetic diseases or disorders to their children.

Some of the familiar genetic diseases are Down syndrome, Cystic fibrosis, Sickle cell anemia and Taysachs. So if your history suggests that genetic testing would be helpful, you may be referred to a genetic counsellor or you might seek out genetic counselling yourself.

Genetic counselling is not a technology, but a systematic process of creating awareness by evaluating family history and medical records, ordering genetic tests and helping parents understand and reach decisions about what to do next. It uses a variety of techniques, biochemical, statistical and physiological for determination of actual disease. In simple words, it only provides informations and education to individuals, couples or families having history of genetic disease.

The National Society of Genetic Counselors provides some examples of individuals and couples who may benefit from genetic counselling:

— Counselling is advisable for persons or families with genetic disorders such as Down syndrome, cystic fibrosis, hemophilia and other inherited disorders.

— Persons or families with a history of certain cardiac, cancer or neurogenetic adult disorders.

— Persons or families affected with mental retardation, hearing or other conditions which could be genetic.

— Individuals with a history of multiple miscarriages.

— Women at age 34 and over who is pregnant or planning pregnancy.

— Pregnant women at high risk due to ultrasound screening tests.

— Pregnant women concerned about the effects of exposure to medications, drugs, chemical, infectious agents, radiations or certain work conditions.

— Any person who has a close relative with a disorder.

Genetic counsellors are health professionals with specialized graduate degrees, experience in the areas of medical genetics, physiological theory, ethics and counseling. They also participate in clinical training. Commonly they have master degrees professionals certified by American Board of Genetic Counseling, physicians certified by American Board of Medical Genetics and nurses with specialized genetic training.

Genetic counselling is a growing field. There are handsome job opportunities for genetic counsellors. Traditional jobs are in prenatal counselling. But increasing opportunities are also available in other areas including:

Clinical: working with patients and families.

Commercial: working with biotech companies.

Educational and public policy: teaching and advising students.

Median income for a genetic counsellor with a master degree and up to 5 years experience in 2002, in the US, was $47,000 to $556,000.

Genetic counsellor work as a member of a health care team, providing information and support to families who have members with birth defects or genetic diseases and to parents who may be at risk for a variety of inherited conditions.

Genetic counsellor identify families at risk, investigate the problem present in the family, explain the informations about the disease, analyze inheritance patterns, risks and review available options with the family.

Genetic counselling is time consuming process. A great amount of time is spent face to face with each patient or family. The process includes following stages:

— Informations are gathered and a family history is constructed.

— Family history is analyzed for genetic or birth defect risk.

— To know about the occurrence of genetic conditions in the family.

— Discuss the options available to reduce risk, including tests available.

— Help in selecting the appropriate option for an individual or family.

— Education about health options and available resources.

Genetic tests don’t yield easy to understand results. The role of genetic counsellor is to explain what these complex tests mean. Genetic counsellor discuss the test result with patient or family. Limitations of tests are also explained to patient. Different patients require different length of time to absorb informations provided and explore available options.

Genetic counselling process not always include genetic testing. In some cases testing is not available or not desirable to the patient. In other cases conditions are best diagnosed through other means, for instance, with radiology or a clinical genetic exam.

The study of genetics has truly reached the Promised Land. It is hardly necessary to emphasize the importance of establishing the nature of diseases. It is important not only for clinical diagnosis but also for genetic counselling. Knowing more about our genetic makeup also should lead to a more individualized approach to preventive medicine.

We may be able to be tested to learn wether we are especially susceptible to certain diseases, so that we can take steps to prevent them. A good genetic counsellor understands that what is right for a family. He can also refer you to specialists for further help. So, we can say that he has pivotal role to play in “a safe way to life.”

The writer is a biotechnologist at the Centre of Biotechnology, University of Peshawar

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