Genetic testing and thereof risk-reducing surgery of the body part having the errant gene can be the best way to help prevent and cut down hereditary gynecological cancers like ovary, cervical and uterine in at-risk patients, top oncologists said here on Sunday, pointing out that such cancers comprised 5-19% of the total cancers and are on increase in the country.
In this regard, AIIMS at its cancer institute at Jhajjar in Haryana has already started working on preparing its own guideline and protocol to help provide counseling and addressing the problems of those suffering from familial or hereditary gynecological cancers like breast, uterine and cervical cancer. Family members also need to be counseled in such cases.
Gene testing can specifically help cases where cancer runs in the family. This segment is called hereditary or familial cancers which account for 5 per cent of breast, uterine and colorectal cancers and 25 per cent of ovarian cancers among Indian women.
“A majority of cancer diagnoses are due to unknown causes; however, 5-10 per cent of individuals may develop cancer due to an inherited genetic mutation. This can lead to hereditary cancer syndrome, which increases the risk for various cancers. Genetic screening is relatively low cost and should be offered to more at-risk patients.
“This technology is a hope for many those at risk of cancer. For instance, a mother who has cancer wants to know if her baby in the womb will also have cancer. The genetic screening can detect this fear and accordingly preventive steps can be taken,” said Prof Sushma Bhatnagar, Chief IRCH and National Cancer Institute (NCI) AIIMS, Jhajjar.
Talking to reporters on the sidelines of ongoing lecture sessions on ‘Hereditary Gynecological Cancers: From Evidence to Practice,’ being delivered by Prof Ranjit Manchanda, Lead Precision Oncologist from Wolfson Institute of Population Health, Queen Mary University of London and Barts Health NHS Trust UK, she said a dedicated team at the AIIMS, Jhajjar is now preparing a guideline detailing how to counsel and manage such high-risk cases.
Prof Bhatnagar felt that there has been limited work done in this field in India so far. “Statistics indicate that in India there is probably a higher burden of familial cancers, for example with up 20-25% in women with ovarian cancer, which appears to be higher than what is seen in the West,” she said.
Prof Manchanda who is on a visit to AIIMS as Infosys Chair of Oncology stressed on importance and nuances of screening, and the need for raising awareness about how an early genetic test can help some women avoid cancer.
Prof Manchanda stated that the identification of women harboring these mutations not only allows their optimum treatment but also helps to identify unaffected at-risk relatives who can then access screening and prospective strategies. This will prevent cancers in their relatives and reduce the burden of disease in the population. “With wider availability and affordability of genetic testing, counseling and specialized risk-reducing and treatment to include these strategies as part of their clinical practice.”
He said that evidence from India showed 10 per cent of breast cancers could be prevented with genetic testing. “Technology to undertake gene testing on a large scale was now available and needed to be used more for cancer prevention. “Identification of women harboring genetic mutations that cause cancer not only allows their optimum treatment with newer available drugs but also helps identify unaffected at-risk relatives who can then access screening and preventive strategies.”
On average, 20 per cent of ovarian cancers, 4 to 5 per cent of breast cancers, and 3 to 5 per cent of uterine cancers can be prevented through genetic testing, he claimed.
According to cancer experts, on average, four in 100 women in a given population get breast cancer while one in 100 gets ovarian and uterus uterine cancers. The genetic factor can, however, raise the breast cancer risk from 4 per cent to 80 per cent and ovarian cancer risk from 1 per cent to 40 per cent, they say.
Prof SVS Deo, Head Surgical Oncology AIIMS said that lack of awareness about these cancers among doctors and laymen, limited availability of genetic counseling and testing services, and reluctance to avail of these services are major roadblocks.
He said that of 300 women counseled for genetic testing, just 40 opted for risk reduction surgery of the erring genes. Till now, genetic testing facilities are available in AIIMS, Delhi, and Tata Memorial Cancer Hospital besides a few hospitals in the private sector.
Prof Neerja Bhatla, head, of gynecology, dwelled in detail on how genetic testing aided cancer reduction. She said that once a breast cancer patient is found carrying a cancer-causing gene, she can be advised to have regular check-ups for timely detection of potential cancers. If she agrees, we suggest risk-reduction surgeries in which we remove the normal organ of the patient once genetic testing shows that the organ is at high risk of malignancy.”
“These tools may also help them learn how to manage their risks with personalized cancer screening and identify steps they may take to reduce their cancer risks.
“For example, if testing shows that the person has a high cancer risk, the counselor may also talk about the best ways to manage it. These may include lifestyle changes, early detection, watching for signs and symptoms of cancer, medicines to reduce cancer risk, or even preventive surgery,” explained Prof. Deo.
Prof Rajiv Sarin from Tata Hospital Mumbai highlighted that genetic testing has become a promising avenue for the prevention, prognosis, and treatment of cancers while Prof Neena Malhotra, Head, IVF Unit AIIMS, Delhi highlighted the importance of preserving childbearing function as these women are young and keen to have pregnancies. “The cancer treatments lower the childbearing potential but with advancements in the field of IVF it is now possible to share their gamets prior to treatment and freeze them to be used once treatment is over."