GENETIC COUNSELLING: SIGNIFICANCE OF GENETIC TESTING AND COUNSELLING.
Genetic counseling is a communication process between a healthcare professional trained in genetics and an individual or family affected by or at risk for an inherited disorder.
In India congenital anomalies and genetic disorders have become one of the major causes of infant morbidity and mortality. It has been observed that a number of factors like high birth rate, consanguinity, allelic selection etc contributes to disease manifestation s which occurs due to genetic reasons. About 11 % of infants born every year have a genetic problem and about 3-4 % has congenital abnormality. Moreover, certain regions in India due to allelic selection are prone to community based genetic diseases like Thalasemia, Sickle cell anemia, muscular and neurological disorder etc. To detect, diagnose, and manage genetic disorders it is of utmost importance to understand the genetic background or the mutation/ mutations harbored by the individuals
The emergence of several genetic tests has had a tremendous effect on clinical diagnosis. Diseases, which were difficult to diagnose earlier, are now aided by genetic screening tests. These tests are new and not very well known among clinicians. More important, the implications of the results must be explained to the patient and relatives in a professional manner, since most of the times, the results have tremendous emotional impact on families. The education and counseling accompanying genetic testing is provided by genetic counselors in all developed countries, as this is essential for the decision-making process regarding testing and dealing with test outcomes.
Worldwide, the prevalence of couples who remain involuntarily childless over a period of twelve months ranges from 3,5% to 16,7% with a median of 9%. According to the available literature, the reasons for involuntary childlessness in patients seeking assisted reproductive technology can be attributed to male infertility in 11%, to female infertility in 24% and to both partners in 40%. However, in 25% of cases, the reason for infertility remains unidentified. Genetic testing is of special importance concerning treatment options and preventative measures for the patient as well as for the offspring. Genetic factors include chromosomal abnormalities, single gene mutations and monogenic or multi-factorial syndromes and diseases. The diagnostic measures taken in couples that are involuntarily childless are usually initiated by the gynecologist, the urologist or the human geneticist. Clinically, infertility is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. Evaluation of the genetic background by high resolution modern techniques available is thus a necessity. Moreover, in case of couples who are carriers for a particular disease it becomes important to calculate the risk of inheritance of the disease in child. Therapy in such cases is predominantly performed at specialized centers of assisted reproduction, as in 50% of cases, medical treatment of childlessness results in assisted reproduction. Assisted reproduction would often involve choosing the embryo that would increase the chance of implantation. Such embryos should be genetically evaluated to reduce the chance of failure. Thus, the concept of PGS and PGD in case of assisted reproduction.
Abortions have frequent incidences. One in six or one in seven confirmed pregnancies result in abortions. Most of these abortions occur within the first trimester. The reasons for abortions are various and cannot be disclosed in a number of cases. From the mother’s side, immunological or fetal factors are relevant. The most frequent reason for abortions are chromosomal anomalies, diagnosed in 50% to 60% of all abortions in the first trimester and in 20% in the second trimester. These chromosomal abnormalities are usually trisomies, generally caused by chromosomal mal-aggregation. Some publications request prenatal testing after the confirmation of the trisomy in an abortion, as the risk for recurrence is increased for the following pregnancies. However, this small increase in risk has to be related to the basic risk and may apply to younger women. In contrast, this additional risk has only very limited practical significance in elderly women
The goal of counseling is focusing on an extensive evaluation of the familial history and, if necessary, clinical-genetic examinations, in order to decide whether and which further genetic testing is appropriate for the couple. It is important that all couples undergoing infertility treatment should be informed of the risks, benefits, and possible outcomes through the use of genetic testing and counseling. As more genes are discovered, and the etiologies of infertility disorders become well understood, the management and treatment of infertility will improve as well. Genetic counseling is also required in case of couples with abnormal NT as detected by the radiologist, recurrent abortions or stillbirths. The experienced genetic counselor would help to guide the couple towards proper genetic tests to evaluate their background and predict risk involved in case of a particular pathological outcome. The availability of modern techniques enables more precise genetic counseling and significantly reduces the psychological burden for the patient. The face of diagnosis is now dynamic ever since the completion of the human genome and progress in personalized medicine,. Indeed, there are 10-15 new gene tests, on average, being added to the clinical genetic testing list annually. Knowledge of such tests being put forward to patients in a simple way by the genetic counselor helps them to make a informed decision. A genetic counselor provides information on the inheritance of illnesses and their recurrence risks; addresses the concerns of patients, their families, and their health care providers; and supports patients and their families dealing with these illnesses. Individuals who visit genetic counselors may have a disorder themselves and be concerned about their family and vice versa, couples with an affected child who wish to plan another pregnancy, couples who are planning their first pregnancy and wish to understand the child’s disease susceptibility of their future child as well as couples who are planning a pregnancy late in life and want to assess any potential risks.
When a family member is diagnosed with an inherited disorder, it can cause significant distress and anxiety. Genetic counselors are skilled in helping families cope with the emotional side of a genetic diagnosis. As part of supportive counseling, pediatric genetic counselors may direct families to other resources, including support groups in their community.
The concept for a genetic counseling and further diagnostics is to reduce the disease burden through prenatal testing , and at the same time genetic diagnostics also help to encourage predictive testing that would emphasize on early intervention and management in case of diagnosed disorders .
As there is a common saying : a disease can be rare but Hope should not be”, genetic counseling aims at providing hope and support to every family and to ensure that no one is left behind.
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