Genetic counseling for hereditary cancers: Not everybody’s cup of tea!

Abstract

We read with deep interest the review article published in the previous issue of Cancer Research Statistics and Treatment authored by Ulhaq et al.[1] We feel that this manuscript is of utmost importance for practicing oncologists and the journal needs to be congratulated for selecting this for publication to highlight this issue. After more than three decades of practicing oncology in the country, the senior writer of this letter is acutely aware of the lack of knowledge among treating clinicians and the extreme dearth of trained genetic counselors. Hereditary cancer contributes 5–10% of the overall cancer incidence. Early diagnosis and treatment are the most successful tools in cancer management for a higher survival rate. This principle can be applied to hereditary cancer families by identifying high-risk individuals and putting them on surveillance. Genetic counseling is the first step in this process. Pivotal steps have been discussed in the article.[1] Developing genetic counseling units with specialization in oncology is an important step towards generating awareness about hereditary cancer syndromes. As multiple family members are at risk of developing cancer, multiple lives can be saved by providing surveillance and prevention to such families. Counseling and offering genetic testing based on the next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques is at the heart of this concept of prevention, early diagnosis, and treatment. A few important issues were not highlighted in this article.[1] One important issue in the Indian scenario is pre-symptomatic carrier detection in a young person and marriage-related issues,[2] and the reproductive implications of this diagnosis. Such individuals carry a lifetime risk of cancer, and their offspring will harbor the mutation in 50% of cases. Genetic counseling must be offered to such reproductive couples. Preimplantation genetic diagnosis (PGD) can be offered to couples who are conceiving through in vitro fertilization (IVF). The second important issue is the psychological stress of receiving a pre-symptomatic diagnosis. These newly diagnosed pre-symptomatic carriers are young individuals who are on the verge of their careers and starting their reproductive lives. We need a team of support groups, counselors, and psychologists to take care of the pre-symptomatic diagnosis hurdles amidst job security, insurance policy, etc. The authors, even though they claim to have written an India-specific article, have missed out on at least three major publications in the field from India which significantly add to the knowledge on the subject.[3-5] The cost of testing and surveillance also needs to be considered by the individual patient/person. Now, with a large industrial house with deep pockets, entering the field of genetic testing and promising comprehensive genetic profiling at less than `15,000, a whole set of new and unknown issues are bound to arise, and technical awareness and expertise will be desperately needed to tackle this. Trained genetic counselors are lacking in oncology units. Pretest and posttest counseling is extremely important. Often, we deal with a dissatisfied patient and/or their family when confronted with a genetic abnormality labeled as a variant of uncertain significance (VOUS) when adequate pretest counseling is not done. VOUS’ are not actionable. Medical/surgical intervention to prevent cancer cannot be offered. Family members are screened as per their risk status in the pedigree analysis. VOUS variants may, however, be reclassified based on the results of testing of other affected and unaffected family members. Reanalysis of data can also be offered as new information is added to the literature with time. If a pathogenic or likely pathogenic variant is identified in the report, it is actionable, and screening of family members can be offered. Family members who become carriers of the variant need psychological support and need to be put on cancer surveillance. Individuals who test negative are relieved. They can act as positive pillars of the family. We are lucky to have a superbly trained medical geneticist and a full-fledged department of medical genetics at our center. However, the situation is not so rosy at most centers. We strongly advocate that a trained genetic counselor be available at all large comprehensive cancer treatment centers. Till this happens, treating oncologists will have to pull up their socks, get trained in the field, and take up the responsibility of genetic counseling of their patients. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.