Collaborative efforts see research findings being taken from bench to bedside

A Qatar Genome Research Consortium study led by Dr Lotfi Chouchane of Weill Cornell Medicine – Qatar (WCM-Q) reported in February the first landscape of cancer germline mutations – hereditary mutations – in the Qatari population.

Since then, scientists at Qatar Foundation‘s Qatar Genome Programme (QGP) have teamed up with clinicians at Hamad Medical Corporation (HMC) to build on these findings to inform the current standard of care in the country.

Germline or hereditary mutations are passed on from parents to their children and play an important role in cancer risk and susceptibility. Knowledge and understanding of these hereditary mutations can be used to develop preventive measures that reduce the likelihood of developing cancer.

As part of the collaboration with Dr Salha Bujassoum, senior consultant and clinical lead of the Cancer Genetic and Breast Cancer programme at the HMC National Center for Cancer Care and Research (NCCCR), Qatar Biobank participants carrying pathogenic germline BRCA – BReast CAncer gene – variants were identified. These variants increase the risk of developing breast cancer in women and prostate cancer in men.

Fresh blood samples collected from the variant-carrying participants were examined and variants found in the Qatar Genome database were validated experimentally by HMC. The participants were then seen by Dr Reem Al-Sulaiman, Assistant Professor and Lead of the Genetic Counseling Directory at HMC, who referred them to the high-risk breast cancer clinic or urology clinic to manage their risk of cancer.

Early detection

Breast cancer is the most common cancer in Qatar, accounting for 31% of cancer cases in women. The lifetime risk of developing breast cancer in people carrying BRCA mutations is up to 87%. Testing for these mutations allows women to proactively manage their risk through enhanced screening programmes, chemo prevention, prophylactic surgery, and other methods. In addition, family members of BRCA mutation carriers can also be offered testing to assess their risk of developing cancer.

According to Dr Bujassoum, the data from QGP has provided them with an opportunity to save lives by identifying high-risk individuals who carry a BRCA mutation, and their family members, by giving them surveillance opportunities not only for breast cancer but also for other associated cancers such as ovarian and prostate cancer.

The national breast cancer screening programme in Qatar targets women between the ages of 45 to 69 years old, using mammogram testing for early detection. The high-risk genetic clinic at the NCCCR is also designated to evaluate people at high risk of developing cancer because of personal or family history, including breast cancer.

High-quality genomic data

Now in its seventh year, QGP has sequenced over 30,000 genomes, generated and analysed a huge amount of high-quality genomic data, published its findings in various high-impact scientific journals, and presented in several symposia both locally and internationally.

QGP Director Dr Said Ismail said that this collaboration with HMC serves as proof of principle experiment where data from a population study is successfully used to inform clinical intervention. Dr Ismail added that they would like to extend the bench-to-bedside approach to other familial genetic disorders

Professor Asmaa Althani, Chairperson of the National Qatar Genome Committee, said that national projects like Qatar Biobank and QGP have already screened tens of thousands of Qatari genomes for research purposes. Now they are showing that data produced can be utilised clinically, especially in the area of predictive genomics and preventive medicine.

Check out Marhaba’s FREE e-Guides for everything you need to know about Qatar.