Why is genetic counselling an unmet medical need?

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.

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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 genetic disorders in India. 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.

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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.

Unmet need in health care

As efforts continue to deliver personalized medicine, genetic counsellors can be vital to patients care. Genetic counsellors fill a niche that clinical geneticists or oncologists cannot compensate for, because of their good training of human genetic principles and their focused skills. Genetic counselling should preferably accompany clinical genetic testing to ensure that individuals undertake the right tests and get an accurate interpretation of test results. Incorrect interpretation could often mislead patients into making unfounded assumptions about their health risks.The New England Center for Investigative Reporting found that several women had inadvertently aborted healthy fetuses in 2014 after prenatal screening tests were misinterpreted without the assistance of a trained genetic counsellor. Hence, it is crucial to integrate genetic counselling into clinical practice across the different medical disciplines. Genetic counselling is considered as ‘non-directive’ science communication or ‘client-centered’ education which enables an iterative discussion about the impact and use of the genetic information. At truGeny, our certified genetic counsellors will help translate genetic information into clinical practice while navigating the psychological, ethical and legal pitfalls. To ensure access to quality genetic services for all individuals, truGeny offers online genetic counselling services via their tele-genetic s platform with a vision to improve patient’s access to health care in areas with geographical barriers, while reducing cost burden and saving time.


  1. Smith, R. D., &Mallath, M. K. (2019). History of the Growing Burden of Cancer in India: From Antiquity to the 21st Century. Journal of global oncology, 5, 1-15.
  2. Global Genes, Rare diseases: Facts and statistics
  3. Institute of Medicine. Rare diseases and orphan products: Accelerating research and development. Washington, DC: The National Academies Press. 2010
  4. Van Der Wouden, C. H., Carere, D. A., Maitland-Van Der Zee, A. H., Ruffin, M. T., Roberts, J. S., & Green, R. C. (2016). Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Annals of internal medicine, 164(8), 513-522.
  5. Pet, D. B., Holm, I. A., Williams, J. L., Myers, M. F., Novak, L. L., Brothers, K. B., … & Clayton, E. W. (2019). Physicians’ perspectives on receiving unsolicited genomic results. Genetics in Medicine, 21(2), 311.
  6. Hauser, D., Obeng, A. O., Fei, K., Ramos, M. A., & Horowitz, C. R. (2018). Views of primary care providers on testing patients for genetic risks for common chronic diseases. Health Affairs, 37(5), 793-800.

All you need to Know about Genetic Counselling

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Genetic counselling is a health service provided to give information and offer support to people who have or may be at risk for genetic disorders. During the counselling session, discussions about the various genetic risks take place and also the need for genetic tests is confirmed or ruled out.

The process involves:

Who offers Genetic Counselling?

This service is offered by professionals such as genetic counsellors (certified healthcare workers with experience in medical genetics and counselling)and medical geneticists (doctors who specialize in genetics). These counselling sessions are usually held in-person visits with individuals or families, but with the advent of mobile phone technology, more and more of these counselling session are being conducted over the telephone or in a group as well. The counselling sessions take place in a doctor’s office, hospital or at a genetics centre.

Who can request for Genetic Counselling?

Any individual concerned about an inherited condition can choose to go for genetic consultation. It plays a crucial role in the decision-making process for genetic testing.

People may be referred to a genetic counsellor for the following reasons:

What happens during a Genetic Counselling Session?

When an individual seeks genetic counselling, he/she is provided with information about genetics and specific questions and concerns are addressed. The genetics professional will ask about a person’s medical history and take a detailed family history to help determine whether a condition has a genetic component. A physical examination may also be performed, and appropriate tests may be suggested.

For individuals who are diagnosed with a genetic condition, the counsellor will interpret and communicate complex medical information to explain the diagnosis and how the condition is inherited. The counsellor will also discuss the risk of passing the condition to future generations and the options for testing and treatment.

A genetics professional will NOT:

How are Genetic Conditions diagnosed by a Counsellor?

After analyzing a patient’s medical history, family medical history, and DNA results through laboratory tests, including genetic testing, diagnoses will be made. Genetic diagnoses can be made anytime during life, from before birth to old age. Having a diagnosis can help in making treatment and management decisions. It can also assist individuals to know what to expect and help them identify useful support and advocacy resources.

How can I find a Genetics Professional in my Area?

To find genetics professional in your area, you may ask your doctor for a referral. If you have a family history of cancer or heart disease or if you are planning to have a family, then don’t wait.You can seek genetic counselling assistance from truGeny A convenient way to understand your health risks from the comfort of your home.