The U.S. Supreme Court heard arguments Monday in a case that both sides consider absolutely vital to the future of medical research.

The case: Can a company take out a patent on a human gene? Or, as the company Myriad Genetics told the Court, not actually a patent on a gene, but a patent on isolated sections of DNA molecules that they synthetically re-create in the lab to make a test for the gene.

Patents were created 150 years ago in the Constitution as temporary protection of new inventions, thus giving economic incentive for inventors. But there is a clear rule that you cannot patent “a product of nature.”

During oral arguments on Monday, justices batted back and forth discussions of making everything from baseball bats to chocolate chip cookies, as they probed lawyers’ arguments about whether the patent was for a human gene (a product of nature)—or for “a new chemical entity,” as company argued in its legal brief, created through a complicated isolation process into a synthetic section of DNA to be used as a gene test.

Thirty years ago, scientists at the Utah biotech company Myriad painstakingly unraveled the 20,000 human genes that exist in a “6-foot-long molecule that’s coiled and compacted, and stuffed into each cell”. They beat other researchers in the race to isolate two genes, known as BRCA1 and BRCA2. Mutations in those genes greatly raise the risk of breast and ovarian cancer, and that risk that can be passed on to the next generation.

Myriad holds the patent and thus sells all tests for BRAC1 and BRAC2—at least for two more years until its patent expires. Myriad and others in the biotech industry argue that invalidating gene patents would threaten billions of dollars they’ve invested in creating genetic tests, drugs, vaccines, even genetically modified crops.

Opponents from the scientific and patient advocacy community argued that no company should hold rights to what is part of a human body, because it could hinder research and in fact has hindered patient access to lifesaving information turned up in clinical trials.

The Supreme Court justices today “seemed skeptical…that human genes can be patented,” reported National Public Radio’s long-time court reporter Nina Totenberg. She cited Justice Sonia Sotomayor’s remark that it seemed ‘the isolation [of the gene] itself is not valuable,’ but rather what’s done with the isolated gene. The government’s Solicitor General Donald Verrilli agreed that a gene cannot be patented, but he noted that the cDNA—the synthetic substance derived from DNA–could be patented, leaving the gene available for general research.

That’s when they got into making cookies, and baseball bats out of trees. Justice Stephen Breyer noted, “The patient law is filled with uneasy compromises.” If you develop a new process to extract sap from a plant that can cure cancer, he said, you could patent the process, but ‘what you can’t patent is the sap itself.”

Has the horse already left the barn….or is the barn burning

Myriad’s patents at issue will expire over the next two years, and according to an April 14^thNew York Times article. ”Experts say a relatively small number of other diagnostic tests or drugs are protected by patents on single genes….It will soon be possible to sequence a person’s entire genome for less than the $4000 that Myriad charges to analyze just two genes,” and most experts believe that whole-genome sequencing might not infringe on single-gene patents.

However, two researchers reported a study in the March 25 journal Genome Medicine that there are more than 40,000 patents on DNA molecules, essentially covering the whole human genome.

Credit: XnY hateZ/Fotolia

“If these patients are enforced, our genomic liberty is lost,” lead author Dr. Christopher Mason of Weill Cornell Medical College told Science Daily on March 25^th, referring to the upcoming Supreme Court case. “Just as we enter the era of personalized medicine, we are ironically living in the most restrictive age of genomics.”The research team studied two types of DNA sequence patents—for long and short fragments. They found that 41 percent of the human genome is covered by longer DNA patents often covering whole genes. But the short-fragment patents covered DNA sequences that are found in many genes, and even outside of genes, covering virtually the whole human genome. The study examined a Myriad-patented small sequence within BRCA1, which they found in at least 689 other genes; and found the company’s patents technically cover 19 other cancers plus brain development.

Dr. Mason said he undertook the study because he knew that, in his own research into brain and cancer disorders, he was studying genes or sequences actually covered under patents. “I’m extremely pro-patent,” he said, “…but I believe individuals have an innate right to their own genome…Failure to resolve these ambiguities perpetuates a direct threat to genomic liberty.”

Who owns you, and your genes? The court case is just the opening measure in this song.

  Sources:

• “Supreme Court Asks: Can Human Genes Be Patented?”, a 7-minute NPR story explaining court case, April 15, Morning Edition  
• “Justices Appear Skeptical of Patenting Human Genes,” NPR summary of court session April 15  All Things Considered,   
• “You Don’t ‘Own’ Your Own Genes: Researchers Raise Alarm About Loss of Individual ‘Genomic Liberty’ Due to Gene Patents,” Mar. 25 2013 Science Daily,  
• “Justices Consider Whether Patents on Genes Are Valid,” April 14 New York Times  
• “Are Human Genes Patentable?” April 12 ScienceDaily

Disclosure: Fight Colorectal Cancer has accepted funding from Myriad Genetics in support of its patient education program. Fight Colorectal Cancer has ultimate authority over website content.

Dr. Pia Morelli with Fight Colorectal Cancer Board Chair Nancy Roach

Fight Colorectal Cancer and its generous Lisa Fund donors struck a blow against late stage colorectal cancer Tuesday, April 9th at the 2013 annual meeting of the American Association for Cancer Research (AACR) in Washington D.C.

Top cancer researchers from around the nation applauded as we, along with the AACR, awarded a $50,000 research grant to Pia Morelli, M.D., Ph.D., a post-doctoral Fellow at the University of Texas MD Anderson Cancer Center in Houston.

With this grant, Dr. Morelli will use highly specific DNA tests on blood samples to identify those patients most likely to respond to drugs that target the Epidermal Growth Factor Receptor (EGFR), and also to detect even more specific KRAS and EGFR mutations that develop over time, which perhaps cause patients to eventually become resistant to anti-EGFR drugs such as Erbitux (cetuximab) and Vectibix (panitumumab).

Currently, tumors of late-stage colorectal cancer patients are tested to detect a KRAS genetic mutation. If they have the mutation, they do not receive Erbitux or Vectibix. However, even those who have wild-type (non-mutated) KRAS and initially respond to anti-EGFR treatments can develop resistance and no longer benefit from these powerful drugs.

Researchers now understand that cancer is usually a “cascade” of events–often involving more than one genetic mutation and/or abnormal cell functions.–and that over time, patients may develop new mutations, even in different sections of one tumor. However, tumors are always leaking DNA into the blood stream. In her research, Dr. Morelli will analyze blood samples of colorectal cancer patients using a highly specialized new technique of DNA analysis that can detect these less frequent mutations that can occur in both the KRAS gene  and in EGFR cell-wall mutations over time, and that might cause chemotheraphy resistance. The ultimate hope would be to eventually use blood DNA analysis instead of repeated tumor biopsies to monitor cancer cell changes during disease progression and treatment.

Working at MD Anderson, she will be able to test large numbers of blood samples to see if the highly sensitive DNA analysis can better predict both initial response and/or developing resistance to the anti-EGFR targeted drugs.

Dr. Morelli graduated summa cum laude in medicine and started her medical oncology fellowship at the Second University at Naples School of Medicine, where she had the rare chance to do “translational research”—doing both patient care and  laboratory research on the EGFR (epidermal growth factor receptor) and VEGF (vascular endothelial growth factor receptor) that stimulate tumor growth. Recruited to the University of Colorado Cancer Center, she completed her medical oncology fellowship and a Ph.D. with world-renowned Dr. Gail Eckhardt, continuing her laboratory research into targeted drugs plus running Phase I clinical trials. She then worked two years at the Spanish National Cancer Research Center, and in 2012 came to the MD Anderson Cancer Center.

According to her supervising mentor, Scott Kopetz, M.D., Ph.D, at the MD Anderson Cancer Center, Dr. Morelli has “a unique insight into questions of particular clinical relevance….She is able to maximize the information derived from patient-based studies [combined with]…her unique molecular biology background.”

Her research, he said, is “anticipated to have profound impact on clinical outcomes.”

An AACR expert committee selected Dr. Morelli as winner of the 2013 Fight Colorectal Cancer-AACR Fellowship, given annually in memory of the late Lisa Dubow.

One of just a few AACR fellowships–and the only one focused on late-stage colorectal cancer–it is funded 100% by donations to the Lisa Fund at Fight Colorectal Cancer.

Lisa Dubow, one of the founding members of Fight Colorectal Cancer, directly credited researchers for giving her extra years of survival with stage IV colorectal cancer. Before her death, she launched what became known as the Lisa Fund to support young scientists who chose advanced (metastatic) colorectal cancer as their research focus.

Each year at Call-on Congress, Fight Colorectal Cancer gives out three awards to advocates who go above and beyond to advance the cause of colorectal cancer patients. The 2013 award recipients are:

The Andrew Giusti Memorial Award was posthumously awarded to the late Kate Murphy for her tireless activism on behalf of colorectal cancer patients and for focusing, like Andrew Giusti did, on pushing for great science that will translate to patient benefits as quickly as possible.

Kate was a founding staff member of Fight Colorectal Cancer and our Director of Research Communications. She was the first patient advocate to ever sit on the National Comprehensive Cancer Network’s Colon/Rectal/Anal panel, which develops treatment guidelines for oncologists. She also served on nearly a dozen other scientific committees, always staying true to the needs of the colorectal cancer patient and challenging researchers to do better on their behalf.

Kate passed away from Lynch syndrome-related colorectal cancer in October 2012. Her husband Tom received the award at Call-on Congress.

Andrew Giusti was a former Board member, scientist and colorectal cancer patient. This memorial award honors advocates who work in the research environment. Andy was a superb research advocate. He was working on a vaccine against colorectal cancer when he was diagnosed in 2005 with stage IV colorectal cancer at the age of 40. He passed away in 2010.

The Advocate of the Year Award went to husband and wife team Eric and Rose Hausmann of New Jersey.

Through the years, they have raised over $30,000 for Fight Colorectal Cancer through local events, attended Call-on Congress for five years in a row, served as mentors to new advocates, represented Fight Colorectal Cancer at countless speaking events, filmed this amazing screening awareness PSA and were instrumental in getting their two senators from New Jersey to introduce a resolution proclaiming March 2013 Colorectal Cancer Awareness Month.

Individually, they are amazing people with the strength to get through Rose’s stage IV colorectal cancer while still fighting to advance the cause. Together, they are a force to be reckoned with.

Rep. McGovern with Massachusetts advocates Amy Robert (left) and Caitlin Gambee

The Congressional Champion Award was presented to The Honorable Jim McGovern (MA-2).

Rep. McGovern has strongly supported colorectal cancer legislation for many years.

He cosponsored HR 4120 in the 112th Congress that would remove barriers to screening colonoscopy for Medicare patients, co-authored a Dear Colleague letter in 2012 urging his fellow members of Congress to wear blue on the day of Fight Colorectal Cancer’s Call-on Congress visits to Capitol Hill, led a 2012 sign-on letter to House appropriators in support for funding for the the colorectal cancer program at the Centers for Disease Control and Prevention, led introduction in 2009 with Rep. Kay Granger (a past recipient of the Congressional Champion Award) of the Colorectal Cancer Prevention, Early Detection and Treatment Act, and spoke at 2011 press conference in support of colorectal cancer screening.

You think we’ve made a lot of noise during this Colorectal Cancer Awareness month?

We’re only going to get louder. On Monday morning, Fight Colorectal Cancer survivors and advocates will ring the opening bell on NASDAQ—representing 1.2 million colorectal cancer survivors in the U.S. who are only going to get louder as our numbers grow.

Good news or bad news? Both, really. As Boomers age, more Americans will get cancer—and with better treatment and earlier diagnosis, there will be more cancer survivors.

In just 10 years, the number of cancer survivors in the U.S. will increase by nearly a third—to almost 18 million survivors of all types of cancer in 2022. That population explosion and other eye-opening facts are reported in “Cancer Treatment & Survivorship Facts & figures 2012-2013,” a 35-page report just released by the American Cancer Society.

Some facts about colorectal cancer:

• Colorectal cancer is the second most common in the nation’s current 13.7 million cancer survivors. (Among men, 43% are prostate cancer survivors, with colorectal cancer second at 9%. Among women, 41% are breast cancer survivors, with colorectal and uterine cancer second at 8% each.)
• Almost half (45%) of all cancer survivors are 70-plus years old. For colorectal cancer, the median age for diagnosis is 70.

Survivor care needs to catch up

Survivors cover a wide spectrum—from those who’ll never have another trace of the cancer to those who live with continuous therapy to keep the cancer controlled.

Yet “many survivors, even among those who are cancer free, must cope with the long-term effects of treatment….As more people survive cancer, it is vital that healthcare providers are aware of the special needs of cancer patients and caregivers,” the study’s senior author Elizabeth R. Ward, Ph.D., told Reuters Health News Service .

But a 2012 study presented at last summer’s (June 2012) ASCO annual meeting found that only 22% of 1000 primary care providers correctly identified peripheral neuropathy—which can persist for months, years, or permanently–as a late effect of the commonly used chemotherapy Eloxitan (oxaliplatin).

“Most long-term survivors of colorectal cancer report a very good quality of life,” the American Cancer Society report noted,  but some survivors will have bowel problems, and as many as 40% of those treated for local or locally advanced colorectal cancer (which has invaded nearby organs) will have a recurrence.

Delayed diagnosis: so much more to do

Of the 10 most common cancers, only lung and non-Hodgkin lymphoma had a higher percentage of new cancer cases diagnosed at the regional or metastasized stages, according to the new report.

During the 2001-2007 time period, only 39% of colorectal cancers were diagnosed when it was still localized, when the 5-year survival rate is 90%. A full 20% (and 24% among African Americans) were diagnosed when the disease had already spread (metastasized), when the average 5-year survival rate hovers at 12%.

Take-away for colorectal cancer survivors

• Whether you’re discharged as “free of cancer” or still under active treatment, be sure your oncologist sends complete information to your primary care provider.
• Develop and understand your own “survivorship plan.” (Read here for specifics.)
• Help us improve those statistics–real people–diagnosed late instead of early when this cancer is curable: All year long, educate your family, friends, neighbors, political representatives about the need to get screened for colorectal cancer.

Sources: “Cancer Treatment & Survivorship Facts & figures 2012-2013,” American Cancer Society, March 2013;  “Number of US Cancer Survivors to Increase by a Third by 2022,” March 20 2013 Reuters, and “Better Information Needed for Primary Care Providers Who Treat Cancer Survivors,” June 15 2012 ASCO Post.

The FDA announced yesterday that due to five cases of eye infections reported at one Georgia medical practice, a “compounding pharmacy” in Georgia has voluntarily recalled 79 lots of  Avastin (bevacizumab) repackaged into small vials  intended for retinal (eye) injections. Ophthalmologists sometimes use bevacizumab as an off-label treatment (not approved by the FDA) for “wet” macular degeneration.

No Avastin preparations for oncology practices were involved in the recall.

Clinical Specialties, the Georgia compounding pharmacy, said it distributes the bevacizumab-filled syringes to about a dozen physicians in Georgia, Louisiana, South Caroline and Indiana.

Just two days ago, the FDA announced that the New Jersey compounding pharmacy Med Prep Consulting was recalling all of its products after 5 bags of magnesium sulfate were found contaminated with mold. That recall also involved Avastin in prefilled syringes, as well as morphine and fentanyl products (but no other oncology drugs).

After a fungal meningitis outbreak last year killed dozens of people who were given a contaminated steroid from a Massachusetts compounding pharmacy, the FDA was criticized for inadequate regulation of compounding pharmacies that produce or repackage drugs on an industrial scale. Legislators, advocates, and regulatory staff are working on solutions for heightened monitoring.

What Patients Need to Know

Fight Colorectal Cancer monitors FDA recall announcements for recalls which might affect–or raise concerns for–colorectal cancer patients. More information is available directly from the sources listed with each update.  In this case, oncology patients are not affected by recalls of Avastin repackaged for eye injections.

Sources: “Clinical Specialties Issues Voluntary Nationwide Recall of Avastin Unit Dose Syringes due to Potential Serious Eye Infection,” FDA press release, March 18 2013 ; “Compounding Pharmacy Crackdown Continues With Avastin Recall,”March 19 2013 Medscape Oncology News ; “Medprep Consulting Inc. Announces Voluntary Nationwide Recall Of All Lots Of All Compounded Products Due To Potential Mold Contamination,” March 17 2013 FDA press release.