Going pink – at the genomic level
Every October, pink reigns. Donning T-shirts with the iconic ribbon, carrying pink coffee mugs, writing with pink pens—people everywhere show their support for Breast Cancer Awareness Month. However, for some people, including medical oncologist and Washington University professor of medicine Matthew Ellis, breast cancer awareness extends through the whole year and does not merely appear in the form of an “I heart boobies” handbag.
Ellis is one of the many researchers making strides in the arena of cancer genomics at the Alvin J. Siteman Cancer Center at Washington University School of Medicine and Barnes-Jewish Hospital. The Siteman Cancer Center, one of 21 institutions that make up the National Comprehensive Cancer Network, has partnered in recent years with Wash. U.’s Genome Institute to support research on genomic approaches to cancer treatment.
“If you can put a man on the moon, you can sequence a few different types of breast cancer,” said Ellis, who is hopeful about what can be accomplished with genome sequencing and analysis in the future.
Last spring, Ellis was awarded a 5-year, $4 million Susan G. Komen for the Cure Promise Grant for his work on late relapse estrogen receptor positive breast cancer. By analyzing the differences between the healthy and cancerous genome samples of 77 patients, Ellis and his team have worked to better understand the genetic causes of late relapse in order to establish which therapies would be most effective for certain subtypes of the disease.
Ellis hopes that his research will help to contribute to the realization of an era of highly personalized medicine in which people are treated not with therapies catered to the majority but those best suited to their individual genetic predispositions.
Since 2008, when a team at the Genome Institute first sequenced the entire genome of a cancer patient at a cost of more than $1 million, technological advancements have brought down the costs of sequencing dramatically. Today, it is possible to have one’s genome sequenced by a private company for a few thousand dollars. Soon, this price may well fall down into triple digits.
The biggest undertaking, though, lies not in obtaining the litany of base-pairings that make up a person’s genome, but rather in analyzing such data. In describing the challenges involved in analysis, Ellis compared a sequenced human genome to a road map where the major cities are not yet identifiable.
But the world of cancer genomics is still just taking off. At present, while genomic approaches to cancer treatment are showing success in cancer trials, they are not yet a reasonable option for the vast majority of patients. Ellis describes himself as hugely optimistic about the potential of genomic medicine to revolutionize the way in which cancer is diagnosed and treated, but he warns against the chaos that would ensue if patients desperate for a cure turned to private genome sequencing.
Insurance companies at present do not cover the types of drugs that genomic analysis might suggest to these patients, who would then find themselves with a potential cure they would not be able to afford.
Ellis proposed that, in order to avoid this scenario, “we need to be at the forefront of systematic clinical trials that, one by one, will match mutations and drugs in a way that will give insurance companies a regulatory context to approve drugs for coverage.”
Ellis is currently conducting a unique “genome-forward” clinical trial, which strives to help the very same patients that it studies, rather than looking at past information and past outcomes in retrospect.
The privacy and ethical issues involved in sequencing human genomes, though, are extraordinarily complex. Existing laws prevent insurance companies from discriminating against clients based upon genomic information. However, there are still security risks involved, and Ellis stressed the bravery and trustfulness of all the patients involved in the trial. The day when medical care is personalized at the genomic level is perhaps not far off, but the road will not be simple.
The contents of a person’s genome are tremendously valuable in a medical context but are also riddled with complexities and anomalies; pursuing the promise of genomic medicine will also mean navigating through a minefield of ethical concerns and medical uncertainties.
As Ellis put it: “We’ve opened the Pandora’s box of the human genome, and now we have to deal with the consequences.”