The Future of Cancer Research -- Whole Genome Sequencing

While death rates have come down substantially in heart disease, morbidity rates in cancer have not changed significantly in 30 years. This despite billions of dollars of cancer research.

One of the new promising tools in the fight against cancer is whole genome sequencing (WGS). Only a few years ago, it was cost prohibitive to sequence the full genome of an individuals. This means spelling out all 3.1 billion base pairs of a person's DNA. More typically studies involved looking for a handful of specific genetic markers. Now that WGS has come down to $4000 per person and under two weeks of time, it becomes possible to deploy WGS in cancer research and treatment.

Key to studies using WGS is making sense of the huge amount of data that flow from these analyses. One example of a new study just launched using WGS is a study to be conducted at Memorial Sloan Kettering, UCSF, Vanderbilt and other institutions initially focusing on melanoma.

The Melanoma Research Alliance (MRA), the leading private funder of melanoma research, and the Hidary Foundation, the philanthropic arm of technology entrepreneur Jack Hidary and his family, today announced a new research program with researchers at five institutions comprising a groundbreaking study of the genetics of acral melanoma. Two Team Science Awards will fund new work at Kaiser Permanente Research Institute, Memorial Sloan-Kettering Cancer Center, Translational Genomics Research Institute (TGen), University of California San Francisco (UCSF) and Vanderbilt University. The awards total $1 million and are jointly awarded by the MRA and the Hidary Foundation.

Melanoma is an aggressive form of skin cancer and one of the fastest growing cancers in the U.S. This study will focus on acral melanoma which is a subtype of the cancer that typically forms on the palms of the hands, soles of the feet, or under the fingernails and has a 10-20% lower survival rate than non-acral cutaneous melanoma. These studies will delve into the genetic drivers of acral melanoma, insight that is crucially needed to better understand how new advances in cutaneous melanoma treatment can be applied to acral patients.

The cost of genomic sequencing has come down significantly. Five years ago, it would have cost millions of dollars to perform whole genome sequencing on a few dozen patients. Today the cost is down to a few thousand dollars per individual, and sequencing can be performed in days. This enables researchers to now use sequencing to measure tumor-specific alterations in chromosome structure, point-mutations and gene expression via a combination of whole genome, whole exome and RNA sequencing.

"We have made significant progress in the fight against melanoma since the MRA was founded in 2007," said Debra Black, Co-Founder and Chair of the Melanoma Research Alliance. "This partnership with the Hidary Foundation underscores the need for further research into melanoma, and especially melanoma subtypes such as acral melanoma, in order to develop more effective treatment options for all melanoma patients."

"Despite recent progress in defining the genetic basis of cutaneous melanoma, comprehensive studies are lacking in patients with acral melanoma. These two Team Science Awards bring together the diverse expertise needed to define in all patients the underlying cause of this disease. The insights gained will likely lead to future personalized treatment approaches," said David B. Solit, MD, of Memorial Sloan-Kettering Cancer Center, Chairman of MRA's Grant Review Committee.

"Genetic sequencing has decreased significantly in cost and time and can now be used as a critical tool to investigate cancer, and based on our experiences in technology, we believe that whole exome and whole genome sequencing of larger sets of patients may be key to new breakthroughs in the fight against cancer," said Jack Hidary, Chairman of the Hidary Foundation. "Our partnership with the Melanoma Research Alliance will advance this important work on melanoma. The key to genomic studies is not just sequencing, but the analysis of the data. These teams will focus on unraveling the genetic signature of this cancer, and this will extend their work to other cancers as we collectively build greater genomic capabilities."

The Hidary family's interest in acral melanoma was spurred by the discovery and successful treatment of the family's patriarch, David J. Hidary.

Recipients of these competitive Team Science Awards include one team led by Maryam Asgari, MD, MPH, of the Kaiser Permanente Research Institute that also includes multiple researchers from UCSF. Members of the second team, led by Jeffrey Sosman, MD, of Vanderbilt University, include investigators from Memorial Sloan-Kettering Cancer Center and TGen.