Patient Story: Genomic Analysis for Cancer Risk Screening

Three siblings, two females and one male aged between 40 to 50 years were recommended cancer risk screening, using genomics, by their physician. They have a strong family history of cancer. At present, their father is undergoing treatment for stage 4 pancreatic cancer. Their mother has a history of breast cancer, treated, currently in remission. The maternal side grandmother passed away due to metastatic pancreatic cancer and their maternal uncle due to colon cancer.

Genomics is a valuable aid for cancer prevention. For genomic screening, they consulted DR. Kalyan and learned that genomic analysis will detect cancer early and reduce their chance of dying from cancer.

All three of them underwent Whole Exome Genomic analysis. The results revealed that –

1. All three of them did not have any pathogenic mutations for DNA repair genes (responsible for cancers).
2. The male sibling had multiple benign and structural variants for genes PRSS1 and MSH2, which put him at moderate risk for pancreatic cancer. He was advised to follow up with his physician and recommended every 6 months to one year of screening.
3. The female siblings were both found to be at low risk for pancreatic cancer. They had benign mutations for BRCA, which puts them at mild risk for breast and ovarian cancers. They were recommended yearly screening and mammograms by their gynaecologist.

The siblings were also provided with specific dietary and lifestyle recommendations, based on their genes by their genetic counsellor.

Being up to date with genomics can help oncologists in their diagnostic decisions and treatment.

This case highlighted the importance of proactive and preventive health care using genomics.  They were obliged for GenepoweRx testing and expressed assurance on our analysis. GenepoweRx with the assistance of genomic analysis, and molecular taxonomy of cancer provides patients with a more precise diagnosis, and therefore a more personalized treatment strategy.