Reasons For Genetic Counselling

In India, congenital anomalies and genetic disorders have become one of the major causes of infant morbidity and mortality. It has been observed that several factors like high birth rate, consanguinity, allelic selection, etc contribute 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 % have a congenital abnormality.

Moreover, certain regions in India due to allelic selection are prone to community-based genetic diseases like Thalassemia, 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 importantly, the implications of the results must be explained to the patient and relatives professionally, since most of the time, the results have a tremendous emotional impact on families.

The education and counseling accompanying genetic testing are 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 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 both partners in 40%. However, in 25% of cases, the reason for infertility remains unidentified.

Goals Of Genetic Counselling in Fertility Treatment

The goals of genetic counseling in fertility treatment are:

  • To assess the risk of genetic disorders in prospective parents and their offspring, based on family and medical histories.
  • To educate individuals and couples about the options for genetic testing and screening during fertility treatment, such as preimplantation genetic diagnosis (PGD) and carrier screening.
  • To provide support and guidance to individuals and couples as they navigate the complex decision-making process around genetic testing and screening during fertility treatment.
  • To assist individuals and couples in understanding the results of genetic testing and screening, and the implications for their fertility treatment and future family planning.
  • To promote informed decision-making and help individuals and couples make decisions that are in line with their values, beliefs, and goals for their family and future.

To ensure access to comprehensive genetic services and resources for individuals and couples undergoing fertility treatment.