Guest editorial

Genetic literacy is presently a non-negotiable affair for modern clinics, irrespective of the specialty, because of the wide range of applications of genetics, and with the availability of newer techniques. In recent years, genetic test reports have become the final word in laboratory medicine in various fraternities of medical practice, and more so while catering to women and child health.

Before the 1990s, genetic testing was confined primarily to karyotyping and had a very limited diagnostic yield in India. Karyotyping was initially done manually by taking photographs of chromosomes and manually cutting and pasting them. Various software were developed, and automatic cutting and arranging of chromosomes was possible in the late 1990s. Till then, genetics was mainly related to chromosomal abnormalities, mainly aneuploidies such as Down, Turner, Patau, Edward, Klinefelter syndrome, or structural abnormalities such as translocations, deletions, and duplications. During the first decade of this century, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) applications emerged in diagnostic industries, and along with rapid diagnosis of aneuploidies, diagnosis of microdeletion syndromes such as Di-George, Prader-Willi, and Angelman was possible by FISH, and diagnosis of common regional conditions such as hemoglobinopathies and myopathies were possible using PCR technology. For the past two decades, high-end technologies such as microarray and next-generation sequencing applications have been widely used for laboratory genetic diagnosis, but were very expensive and beyond the reach of the common man. During the past decade, these high-end tests have been offered at competitive prices and are being used in routine diagnostics more commonly. The major issue with the high-end test is a variant of unknown significance, though the Genome India project is very helpful, large studies and development of Indian databases to increase the percentage of conclusive reports are much required. It is necessary for clinicians to understand that these entire conventional to high-end tests are complementary to each other and in today’s era of genomics, conventional test (karyotyping) is still considered to be a gold standard test for certain conditions.

Pre-test and post-test genetic counseling form an integral part of genetic evaluation, and the role of premarital, preconception, and prenatal genetic counseling is increasing in clinical practice. Genetic counseling is very important in better understanding of the genetic disease, associated risks, underlying causes, available disease management options, severity of the risks, appropriate test selection, limitations and benefits of tests, rehabilitation, and connecting the family to various support groups.

Prenatal screening (PNS) can be a very effective strategy for identifying individuals at risk of genetic disorders. In contrast to prenatal genetic tests, which are very expensive, require special set-ups and expertise, PNS can be of great help in reducing the burden of genetic disorders. During the past 10 years, several advanced PNS tests utilizing new platforms, with comparatively more sensitivity and specificity, have emerged. PNS tests for chromosomal aneuploidies, microdeletion syndromes, hemoglobinopathies, neural tube defects, etc., are available.

In reproductive medicine for the management of infertility and abnormal pregnancy outcomes, the role of genetic evaluation is of paramount importance, and presentation-specific genetic evaluation can be very cost-effective for catering to a wide group. Further, along with genetic factors, especially in repeated pregnancy losses, other common factors also need to be ruled out.

In India, unfortunately, very few medical geneticists and trained genetic counselors are available, and the ratio is significantly poor. To cope with the unmet need, the concept of tele-counseling was introduced for the underserved population. As we all know, the majority of genetic conditions are usually constitutional and lifelong, affecting the entire family, and unfortunately, for the majority of them, treatment options are very limited, prevention becomes very crucial. In India, various national programs for women and child health in the form of prenatal and newborn screening are currently initiated by the government for the prevention and management of genetic conditions. However, awareness among the stakeholders and the general population is lacking. The government has also initiated support for an institute driven programs for training medical faculty and health care professionals to increase awareness and strengthen their knowledge of genetics in the active management of patients.

In conclusion, in today’s era of precision medicine, the importance of genetic testing is tremendously increasing. Genetic testing should be done only after appropriate genetic counseling by a trained genetic counselor or medical geneticist. Cost-effective diagnostic workflows for wider acceptance are much required. In developing countries like India, awareness activities to increase the genetic literacy among the healthcare providers are very important.

We appreciate the initiative taken by Dr. Sudha Rao, Editor-in-Chief, and her team from Wadia Journal of Women and Child Health in publishing this special issue on Clinical Genetics and thank her for giving us an opportunity to be Guest Editors. We also thank all the contributing authors whose articles are published in this special issue. We are fortunate to include an invited editorial from Dr. Mrudula Phadke, Former Vice Chancellor of Maharashtra University of Health Sciences, and sincerely thank her for contributing the same.