Why is genetic counselling an unmet medical need? truGeny

Proper diagnosis of genetic disorders and cancers continue to remain an unmet medical need as the diagnostic process is challenging and at times patients are even misdiagnosed. With an estimated 1.15 million new cases in 2018, cancer incidence in India is predicted to almost double by 2040 as a result of demographic changes alone 1 . On the other hand, rare genetic diseases account for 35% of infant deaths in the first year of life 2 . As much as 80% of rare diseases are of genetic origin and often require genetic testing to properly diagnose them 3 . However, their needs are often neglected or overlooked by clinicians and the research community alike as these patients represents a negligible percentage of the overall patient population. As a result there is a gross underrepresentation of their diagnostic and therapeutic needs. New genetic discoveries are creating newer opportunities in prevention, maintenance of health and management of heritable disorders. To fully realize the potential of these medical breakthroughs, strategies must be in place to disseminate accurate genetic information about the available resources for diagnosis, treatment and prevention of genetic disorders. genetic testing can play a pivotal role in implementing such preventive measures, by providing individuals a detailed understanding about the risk of genetic conditions including some of the most common chronic diseases and the use of the genetic information towards making life-determining choices. Enabling a ‘proactive strategic’ decision-making pathway According to a study conducted by the March of Dimes Birth Defect Foundation, 64.4 out of 1,000 birth defects suffer from https://trugeny.com/. Currently, the diagnostic and rehabilitation facilities are scarce in India and focused in certain limited locations. The best defense against this growing burden is an early diagnosis in a proactive strategy i.e. prenatal screening before marriage or before conception that lets an individual and family know of their genetic implications. Notable improvements can be made in the lives of these individuals by diagnosing early and avoiding delays in care resulting in a greater probability of surviving, less expensive treatment and reduced morbidity. Genetic counselling would be a particularly important strategy, which helps in reducing misconceptions, addressing frustration and disappointment, and improving understanding and satisfaction. Making the hard work a little easier for clinicians With the growing incidences of cancers and rare genetic disorders, there is public curiosity and concerns about their own health. In addition, advancements in genomic technologies have also propelled the unprecedented growth of genetic testing companies. Direct offerings of genetic testing to the public through ‘Direct-To-Consumer’ model is expected to hit $2.5 billion by year 2024. With the constantly expanding panel of genetic tests, healthy individuals often receive genetic test results that indicate elevated disease risk. Such concerned recipients may turn to their clinicians for assistance, who typically are not geneticists to interpret test results that they did not order in the first place4. Moreover, a recent study has found that primary care providers have concerns about their ability to address DTC test results and a desire for clinical decision support to help in the interpretation of results5. In cases where genetic tests were ordered by the clinicians, the survey conducted on 488 doctors concluded that only 14% felt confident about interpreting the test results and the rest lacked the knowledge and skills to apply genetics in patient care6. In this current scenario, genetic counsellors can play an important role in variant interpretation and are also critical in helping patients and clinicians interpret genetic test results and incorporate them into patient care. If you want to read more: Visit: https://trugeny.in/blog/why-is-genetic-counselling-an-unmet-medical-need/