Underutilisation of GCMarch 7, 2020
In a recent survey of 11,159 patients, it was found that genetic counselling gives patients greater understanding, therapy adherence and clinical outcome satisfaction. Contrary to earlier concerns about the psychological impact of patients who come to know of their genetic status; today, there is a lot of evidence suggesting that GC can reduce the mean level of psychological stress. It has been shown that distress levels in patients with definitive surgery who received GC was much lower than those in patients who did not receive GC. However, there is gross underutilization of GC in clinical practice in India. In most developed countries, individuals with a high risk of breast or ovarian cancer undergo pre-genetic-testing counselling, which is hardly the case in India. Moreover, in India, clinicians also provide GC. This becomes counterproductive, as the time needed for proper diagnosis, therapeutic evaluation, and surgery followed by disease management may get affected. Therefore, a collaborative model of integrating GC into clinical practices is an urgent need of the hour. Clinicians can empower their patients by using referral genetic counselling.
Advances in DNA sequencing technologies like Next Generation Sequencing (NGS) are poised to change clinical practices. In this context, GC can prevent unnecessary genetic tests and reduce the anxiety of individuals who may not need genetic testing. For example, in hereditary breast and ovarian cancer (HBOC) families, several geo-ethnic variants have been identified for BRCA1/1 genes. In India, scientists have conducted a recent study with more than 1,000 unrelated breast cancer patients using NGS where 30.1% patients were carriers and 84.9% mutations were found in BRCA1/2 genes. Furthermore, only 15.1% were non-BRCA genes. 75% of variants were found in patients <40 years of age at the time of diagnosis. Another study in India found that 18.9% of patients undergoing therapy for breast and ovarian cancers needed BRCA1/2 genetic testing. Post-test GC recommended targeted mutation analysis for almost 50% of the high-risk members of these patient families. This clearly indicates that GC can truly
add value to patient care and management in India.
Globally, different models of GC are used, like the “DNA-direct” model adopted for patients with breast cancer in The Netherlands. It is a patient-centric approach where unnecessary information flow, which can cause patient anxiety, is prevented. Primarily, a telephone call to a counsellor will give all the required information, following which written content is sent for all the queries. After the complete understanding and evaluation, a genetic test is performed, while a face-to-face meeting with a genetic counsellor is allowed for customised advice. In the United States, cost-effective tele-genetic counselling is provided to patients and also for healthy relatives. At Royal Marsden Hospital in London, UK, non-genetic healthcare providers have to take online training to follow clear protocols for the approval of genetic testing. In this model, genetic testing can be completed at the time of appointment and the results are then referred to the cancer genetics unit (CGU) for further discussions.
The socio-geographical complexities in India make it difficult for GC to penetrate. The majority of patients prefer to converse in their native language via the face-to-face, traditional counselling model.
However, with large-scale usage of mobile phones and internet services; telephone, video or Skype technologies can enable better reach to patients. Virtual consultation models with different languages can help, as GC is still a growing field in India. Tele-genetic counselling has been shown to increase genetic testing uptake by more than 65% in patients with breast cancer. The integration of the remote counselling model by clinicians into their practice can enhance their reach and improve healthcare outcomes. This seems to be the best approach for tackling a steady increase in cancer cases, meeting local needs, reducing costs and improving early detection, surveillance and disease management.
The author is medical scientist and former director of SGRF, Bangalore