Tuesday, December 13, 2011

BRCA is not the only cancer gene. And other controversies in cancer genetic counseling and testing

Yale Cancer Center "Answers" is a weekly radio show focused on cancer screening, detection, treatment, and prevention to provide the latest information to listeners in Connecticut. Hosted by experts from Yale Cancer Center, the show features a guest cancer specialist who will share the most recent advances in cancer therapy and respond to listeners’ questions.

Click on the above light blue link to be directed to "Yale Cancer Answers" website. Search the "Program Archives by date" and scroll to November 13, 2011 "BRCA is not the only cancer gene. And other controversies in cancer genetic counseling and testing" to listen to Ellen Matloff's recent interview! Read more!

Living in Our Genes: Panel addresses Jewish women and breast cancer

Posted by CindyMindell on November 24, 2011 on www.jewishledger.com

By Cindy Mindell ~

STAMFORD – The Jewish Genetic Disease Consortium counts no fewer than 19 Jewish genetic diseases more common in people of Ashkenazi Jewish descent; one in five Ashkenazi Jews is a carrier for at least one of these diseases. Among them, breast cancer has attained a high level of public awareness and engagement, especially regarding the BRCA (breast cancer) gene and genetic testing that can detect the mutation. But there are more considerations and options to be aware of.

The program will be held on Wednesday, Nov. 30, 9-10:30 a.m. at the Stamford JCC

“Living in Our Genes: Jewish Genes and Breast Cancer” will explore options and issues surrounding the disease. Co-sponsored by the United Jewish Federation (Stamford) Bureau of Jewish Education, Stamford JCC Center Women, and Stamford Hadassah, the panel will include genetic counselor Danielle Bonadies; psychologist Marni Amsellem; and breast-cancer survivors Aimee Elsner and Marlene Gatz, one of whom tested positive for the BRCA gene. The program will be held on Wednesday, Nov. 30, 9-10:30 a.m. at the Stamford JCC.

Genetic counselor Danielle Bonadies is the assistant director of the Yale Cancer Center Genetic Counseling Program Team. There are three specific mutations within the BRCA1 and BRCA2 two genes that are more common in individuals with Jewish Ashkenazi ancestry, she says.

“We all have the two genes, whose job is to provide protection against the development of specific kinds of cancer – breast, male breast, ovarian, and prostate,” she says. “When someone has a change or mutation in one of these genes, it affects the amount of protection they have, which means that the chance of their developing cancer is higher. When someone has the mutation, it’s inherited – not something they can acquire.”

The genetic predisposition to develop cancer is known as a cancer syndrome or hereditary cancer syndrome. There are between 25 and 30 hereditary cancer syndromes, Bonadies says, and while genetic testing can detect the mutation, it is important to pursue the appropriate test.

“Today, when genetics is being targeted and directed at the consumer by large laboratories – specifically, BRCA testing – it’s very important to have your personal and family history evaluated by a genetics professional to make sure you get the right testing,” Bonadies says. “Breast cancer is most widely believed to be related to the BRCA genes, but because there are also other genes linked to the disease, a genetic counselor should get three and four generations of family history.”

Genetic counselors have always taken a full family history to determine appropriate genetic testing, Bonadies says. “But what’s new is the marketing of genetic testing to the average consumer,” she says. “So now, BRCA testing is a household name, but most people don’t know about the other 25 cancer syndromes, and that’s because one consumer lab has the patent on BRCA testing.”

While beneficial to expand awareness, Bonadies says that patients then request that testing, which may be appropriate. “But they take that request to their healthcare providers, who are also being targeted by the same labs,” she says. “The healthcare providers then order the test without knowing the family history and the appropriate test.”

Joining Bonadies on the Nov. 30 panel is Marni Amsellem, a clinical psychologist who specializes in health psychology, and how psychological factors influence adherence to cancer-screening recommendations. A fellow and contractor at the National Cancer Institute (National Institutes of Health) from 2004 to 2009, Amsellem is a consultant with the Cancer Support Community, an international not-for-profit organization that provides free education and support services to cancer patients and their families. She is involved in the Mind Affects the Physical (MAP) project, a longitudinal survey and online community of breast-cancer survivors to determine ongoing needs and concerns. She also provides clinical services to cancer patients and their family members in outpatient and community settings, including Gilda’s Club in Westchester, N.Y. Read more!

Tuesday, November 22, 2011

Thursday, October 27, 2011

When Breast Cancer Tests Get It Wrong

An excerpt from CNN.com

An excerpt from CNN.com Imagine going in for a cancer screening, and the technician turns to you and says, "We're finished, but if I push this button over here, the machine can detect even smaller cancers. But here's the hitch: You have to pay $700 if you want me to push this button."

"You'd be enraged," says Ellen Matloff, director of cancer genetic counseling at Yale University Cancer Center. "You'd want to know why you have to pay extra to push that button. Why didn't they just do it right the first time?"

Click the above light blue link to read the full article at cnn.com Read more!

Wednesday, October 26, 2011

Gene Patents "Like Trying to Keep Water in a Sieve"

"When Myriad started enforcing their patents, they shut down all other labs, including our lab at Yale," (from doing BRCA sequencing), Ellen Matloff, a plaintiff in the case and head of genetic counseling at Yale Cancer Center, told IPS.

See the above light blue link for the full article and more information. Read more!

Monday, October 17, 2011

Congratulations to Ellen Matloff, MS - recipient of FORCE's 2011 Empowerment Award for Advocacy!

From FORCE's Fall 2011 Newsletter

by Sue Friedman

2011 Spirit of Empowerment Award for Advocacy

Ellen Matloff is Director of the Cancer Genetic Counseling Program at Yale Cancer Center. She’s been a member of FORCE’s Scientific Advisory Board since 2002, helping us develop educational materials and draft position statements on key topics. Ellen has been a strong outspoken advocate for the importance of genetic counseling for people concerned about hereditary cancer. As lead plaintiff in the ACLU gene patenting lawsuit, she strives to improve patient access to testing. Read more!

Monday, September 26, 2011

Friday, September 16, 2011

Federal Circuit Denies Plaintiff(s)' Petition for Rehearing in AMP v. USPTO

Original article can be found at patentdocs.org

By Kevin E. Noonan --

ACLU Yesterday, the Federal Circuit denied Plaintiffs' petition for panel rehearing in Association for Molecular Pathology v. U.S. Patent and Trademark Office. In their petition, counsel for Plaintiffs/Appellees asserted two grounds for rehearing, of points of law and fact overlooked or apprehended by the Court (see "Plaintiff(s) File Petition for Rehearing in AMP v. USPTO"). First, the petition contended that the Court "failed to consider whether the DNA fragments claimed in these patents are products of nature." Second, the Court was alleged to have erred by not finding that two other named Plaintiffs, the American College of Medical Genetics and specifically named plaintiff Ellen Matloff, satisfied the standards for standing enunciated by the Court.

Myriad The Court did not address Defendants' petition for panel rehearing. That petition asked the Court to review the standing issue based on their allegation that Dr. Harry Ostrer, the only plaintiff found to have standing, no longer has the capacity for "immediately begin[ning] to perform BRCA 1/2-related genetic testing" upon invalidation of the Myriad patents.

The one certain consequence of the filing of Plaintiffs' petition is that any petition for certiorari will be delayed, making it likely that the Supreme Court will decide the Prometheus Laboratories, Inc. v. Mayo Collaborative Services case before reaching the invalidated method claims in Myriad. Read more!

Thursday, September 1, 2011

Parties in Myriad BRCA Patent Suit Ask Appeals Court for Rehearing

From genomeweb.com

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – Plaintiffs and defendants in a suit seeking to overturn Myriad Genetics' BRCA patents have filed separate briefs with the US Court of Appeals for the Federal Circuit seeking a rehearing of the case.

The appeals court in early August overturned a lower court's decision and ruled that isolated gene sequences claimed in Myriad's patents are not products of nature and are therefore patentable. The court also determined, however, that several of the company's method claims that describe "comparing" and "analyzing" gene sequences were invalid.

In response, both plaintiffs and defendants in the case, Association for Molecular Pathology et al. v. US Patent and Trademark Office et al., have requested a rehearing by the three judges of the appeals court.

Last week, plaintiffs — including AMP, the American College of Medical Genetics, the American Society for Clinical Pathology, the College of American Pathologists, and other organizations and individuals — filed a petition for a panel rehearing on the grounds that the appeals court failed to consider whether the DNA fragments claimed in Myriad's patents are products of nature.

Specifically, the petition, filed by the plaintiffs' legal representatives at the American Civil Liberties Union and the Public Patent Foundation, claims that the appeals court "erred" in deciding that gene fragments described in Myriad's patents are "markedly different" from what exists in nature and therefore patentable because it failed to consider two points: "that the language of the patents defines the function, not the structure, of the patented genes and gene fragments;" and that "gene fragments with the altered chemical structure identified by the court exist in nature."

The brief argues that the composition claims in Myriad's patents are "not defined by chemical structure," but are instead "defined by function" — namely, they encode a particular protein or fragment of a protein. That function, the plaintiffs state, is "created by nature, not by Myriad."

Secondly, the petition notes that "DNA fragments identical to those claimed in the patents appear in the body," citing as examples the fact that DNA fragments are created "every time gametes are produced during the normal process of meiotic recombination as well as during the cellular process by which cells make copies of themselves." They also cite the fact that fragments of fetal genomes have been shown to be present in maternal plasma, and that DNA fragments, including fragments of BRCA genes, can be found in the blood of cancer patients.

The petition also charges that the court wrongly denied standing to two of the plaintiffs in the case — ACMG and Ellen Matloff, a genetic counselor at Yale.

Myriad's petition, filed on Aug. 29, also raises the issue of standing, but argues the opposite point — that none of the plaintiffs have standing to sue, including Harry Ostrer, the only plaintiff that the appeals court found to have standing in the case.

The defendants' argument is based on Ostrer's recent move from New York University to Montefiore Hospital and the Albert Einstein School of Medicine of Yeshiva University, which "eliminates his asserted controversy with Myriad" because Ostrer's new employer does not have a dispute with the company over the BRCA patents, the brief states.

While Myriad's lawyers claim that the appeal should be dismissed as "moot" due to the plaintiff's lack of standing, they request that the panel uphold its decision on the patentability of isolated DNA.

Myriad's petition does not address the appeals court's invalidation of its method claims.

Read more!

Wednesday, August 10, 2011

Genes Should Not Be Patented

retrieved from genomeweb.com

Did the federal appeals court make the right decision in the Myriad case (which says that isolated gene sequences are not products of nature and are therefore patentable)?

69% No. Genes shouldn't be patented.

11% Eh, we'll see what happens next.

8% Yes. Any other decision would have been disastrous for biotech.

6% Yes. Myriad worked hard and deserves to keep those patents.

3% No. The court should have also upheld Myriad's method patents.

Read more!

Wednesday, August 3, 2011

Healthcare Providers Petition Myriad to Add Large Rearrangement Analysis to Standard BRACAnalysis

Retrieved from genomeweb.com August 3, 2011. Click on the above light blue link to access the original article.

By Turna Ray

"More than 200 healthcare professionals have signed a letter to Myriad Genetics requesting that the company incorporate in its Comprehensive BRACAnalysis test the capability to gauge large rearrangements in the BRCA 1 and BRCA 2 genes. The additional analysis may identify patients — particularly those of Latin American and Caribbean ancestry — who have variants that increase their risk for hereditary breast and ovarian cancer that would otherwise be missed by the standard BRACAnalysis test.

Myriad's $3,340 Comprehensive BRACAnalysis test includes complete sequencing of the BRCA 1 and BRCA 2 genes and detects five common large rearrangements in the BRCA 1 gene. Not included in the Comprehensive BRACAnalysis test is the so-called BRACAnalysis Large Rearrangement Test, or BART, launched five years ago, which gauges additional large rearrangements in the BRCA 1 and BRCA 2 genes.

Myriad offers BART as part of the Comprehensive BRACAnalysis test at no additional cost when patients "have an especially strong personal and family history of breast and ovarian cancer," the company states in a brochure for the test. For patients who don't meet Myriad's medical and family history criteria for BART, the firm charges an additional $700 to perform testing that would gauge these additional large rearrangements. In these instances, the additional analysis by BART is usually not covered by insurers because it is considered investigational.

After Myriad recently released data showing that a certain portion of deleterious mutations are missed by standard BRCA testing, a group of genetics professionals, surgeons, oncologists, and nurses led by the Yale Cancer Center wrote an open letter to the company urging it to incorporate this large rearrangement analysis into its Comprehensive test at no additional cost for all patients receiving Comprehensive BRACAnalysis, arguing that anyone eligible for full sequencing of the BRCA 1/2 genes should also receive BART.

"If Myriad included BART testing as part of their Comprehensive testing at the same cost, it means that every single patient would get this important test," Ellen Matloff, director of cancer genetic counseling at the Yale Cancer Center, told PGx Reporter. "The vast majority of patients do not meet Myriad's stringent criteria [for BART]; but every single patient who qualifies for Comprehensive BRACA testing also needs BART testing, and most do not get it."

Noting that Myriad’s revenue in the most recent quarter was $102.4 million, a 13 percent increase year over year, 209 healthcare professionals from 34 US states, Washington, DC, and Canada implored Myriad in the letter "to invest some of [its] earnings into incorporating BART analysis into standard BRACAnalysis" testing. The letter was addressed to Richard Wenstrup, Myriad Genetic Laboratories' chief medical officer.

Myriad said it has gathered the necessary outcomes data to begin the process of incorporating BART into professional society guidelines, which is necessary for insurers to start reimbursing for the test. According to a company spokesperson, in an effort to generate this data, Myriad has provided more than $20 million worth of free BART testing to many patients with a heightened risk of carrying a BRCA 1 or BRCA 2 genetic mutation.

The spokesperson noted, however, that Myriad hasn't yet determined if it will raise the price of its Comprehensive BRACAnalysis test if professional guidelines recommend BART for a subpopulation of patients and the company decides to offer this analysis as part of standard testing.

Prevalence Data

According to an internal analysis of 25,000 patients who met Myriad's eligibility criteria for complementary BART testing, the Comprehensive platform picks up 92.5 percent of all mutations in BRCA 1 and BRCA 2, while BART detects the remaining 7.5 percent of BRCA mutations associated with heightened risk of breast and ovarian cancer. The company estimates that less than 1 percent of patients who had deleterious mutations picked up by BART had negative test results by the Comprehensive BRACAnalysis test.

"Therefore, the chance of finding something with BART is a small fraction of the chance of finding something with the standard testing," Myriad explained in a recent clinical advisory.

However, Matloff and other healthcare professionals feel that the percentage of BRCA 1/2 large rearrangement mutations among high-risk patients are significant enough to justify providing BART as part of the Comprehensive platform. "Actually, if you look at their data," the number of patients with large rearrangements is "not a small percentage of patients," Matloff said. Myriad's analysis indicates that 7.5 percent of all patients positive for any mutation harbored rearrangements that could only be detected by BART, while another 2.4 percent had rearrangements detectable via the Comprehensive test.

Furthermore, healthcare providers in their letter to Myriad cite "data from other groups" — namely, a paper in press authored by a team of genetic counselors at the Center for Cancer Risk Assessment at Massachusetts General Hospital — which "suggests Myriad's 'high risk' criteria do not accurately predict which patients are likely to carry a BRCA rearrangement mutation."

Myriad said in its clinical advisory that it does not have much data on patients for whom BART was ordered separately from Comprehensive BRACAnalysis, but has found that "of all of the mutations that are found in lower risk patients, it does appear that a smaller percentage are detected with either the [rearrangement panel in the Comprehensive test] or BART."

The company attributes this to the observation that approximately 87 percent of large rearrangements are in BRCA 1. "Since the cancer risks associated with BRCA 1 mutations are higher than those associated with BRCA 2, there are more BRCA 1 mutations in patients with high risk clinical histories overall, and this is reflected in the higher proportion of mutations that are large rearrangements in BRCA 1," the company states in its note to physicians.

Myriad also found that the prevalence of large gene rearrangements is particularly high among patients of Latin American or Caribbean ancestry. In this group, Comprehensive BRACAnalysis testing identified 80 percent of all BRCA 1/2 mutations, while 20 percent of all mutations were identified using BART. "Since a higher percentage of mutations in this group are of the type that are detected only with BART, these patients are more likely to be [BRCA mutation] positive if BART is ordered," Myriad said.

The company notes that patients of Middle Eastern descent also appear to have a high percentage of mutations (19.5 percent) only detectable by BART. However, "the [patient] numbers in this group are so small that we can’t be sure if this is reliable information." The current data also don't support large rearrangement testing in patients of African descent, who had 8.1 percent of mutations only detectable by BART.

The Myriad spokesperson told PGx Reporter that the company has submitted its analysis on the prevalence of large rearrangement mutations picked up by BART to the National Comprehensive Cancer Network at NCCN's request.

Insurance Concerns

Now that there is data showing that large rearrangements in BRCA genes occur more often in certain minority populations in the US, Matloff said it's time for Myriad to incorporate BART into its standard testing procedures. "Since they're calling this a 'Comprehensive BRACAnalysis,' it's really false advertising," she said. "If they're going to claim to do comprehensive testing — that's [Myriad's] term — then that should include everything they offer in terms of looking for mutations in BRCA 1 and BRCA 2."

In their letter to Myriad, the healthcare providers note that charging extra for BART will make it inaccessible to the very population that the test stands to help most. The "Hispanic population is one of the most rapidly growing ethnic groups in the US and is disproportionately uninsured, underinsured, and at or below poverty levels," the signees pointed out. "Therefore, this population is less likely to be able to access and afford the necessary, expensive, additional BART testing." Approximately 95 percent of patients at the Yale Cancer Center who are tested with Comprehensive BRACAnalysis do not get BART, "mostly because their insurance won't cover it," Matloff said.

For example, Aetna's coverage guidelines for BRCA testing state that if a woman is negative for founder mutations, then she must meet other criteria that place her at high risk for breast and ovarian cancer in order to qualify for reimbursement for Myriad's Comprehensive BRACAnalysis. However, Aetna notes that since there is insufficient data on the frequency of large BRCA rearrangements in US populations, retesting previously tested high-risk members with diagnostics such as BART would be "experimental and investigational."

Likewise, Cigna's guidelines state that the insurer will only reimburse for BART testing when the patient meets Myriad's high-risk criteria for complementary testing. During a time when payors are demanding a high level of evidence showing clinical utility and cost effectiveness in order to pay for genetic tests, reimbursement for BART may not be as simple as convincing Myriad to include it in the Comprehensive BRACAnalysis panel — a move the company is unlikely to make without raising the cost of the test.

Furthermore, getting BART included in insurers' reimbursement policies may be particularly challenging since insurers are already wary of over-testing with BRACAnalysis. Several payors have instated prior-authorization schemes to ensure that the $3,000 BRCA test isn't being administered to those who don't meet the proper medical and family history criteria.

Some insurers have taken it upon themselves to gather the necessary data to inform their coverage policies around BRCA testing. Aetna is surveying de-identified data on 13,000 of its members who have received BRCA testing in order to gain greater understanding of how physicians are making testing decisions and figure out whether access to such tests is limited for women from lower socioeconomic and minority groups (PGx Reporter 09/22/2010).

Although Myriad hasn't publicly addressed the pricing repercussions of expanding its Comprehensive BRACAnalysis panel, the company is willing to discuss the clinical value of BART. "Currently, most payors do not provide reimbursement for BART as it is not included as a recommended test under guidelines like those from NCCN," the Myriad spokesperson said.

"We encourage medical professionals to provide feedback to NCCN and other relevant professional societies based on their assessment of [our] data. If guidelines are updated to incorporate a recommendation that BART be performed for every patient, we will diligently address the issue with payors."

A Question of Access

The request from healthcare providers to include BART as part of standard BRCA testing comes as Myriad is fighting a legal battle with researchers, doctors, and patients looking to invalidate its patents on isolated BRCA genes. In Association for Molecular Pathology et al. v. US Patent and Trademark Office et al., the Court of Appeals for the Federal Circuit last week upheld Myriad's patents on isolated genes but invalidated five method claims underlying its BRACAnalysis test (see related story, in this issue).

Although Yale Cancer Center has the capability to gauge mutations that aren't picked up by standard BRCA testing, the academic center cannot provide such services due to Myriad's IP position.

Before Myriad began offering BART, Yale Cancer Center had data showing that the company's Comprehensive test was missing a "significant percentage" of mutations in patients, according to Matloff, who is one of the plaintiffs in AMP v. USPTO. "We asked for permission to offer the [large rearrangement] test to our patients until they had [their test] up and running and [Myriad] said, 'No,'" she recalled. "We didn't even get as far as purchasing a license."

Except for Harry Ostrer, a former New York University researcher, the appeals court deemed that all other researchers, patients, and healthcare providers, including Matloff, lacked sufficient grounds to challenge Myriad's patents in AMP v. USPTO." Read more!

Tuesday, August 2, 2011

UPDATE: Appeals Court Decides Isolated DNA Patentable, Myriad's Analytical Method Claims Not

An appeal court ruled last week that isolated gene sequences are not products of nature and are therefore patentable. However, they deemed several of Myriad Genetics' method claims that describe "comparing" and "analyzing" gene sequences invalid. Click on the above light blue link to read more. Read more!

Friday, July 29, 2011

Divided Appeals Court Rules That Companies May Patent Breast Cancer Genes, but Invalidates Patents on Comparing the Genes

FOR IMMEDIATE RELEASE

July 29, 2011

NEW YORK – In a 2-1 decision, a federal appeals court today partially reversed a lower court’s ruling in a case challenging patents on two human genes associated with hereditary breast cancer and ovarian cancer. The court ruled that companies can obtain patents on the genes but cannot patent methods to compare those gene sequences.

The ruling follows a lawsuit brought by a group of patients and scientists represented by the American Civil Liberties Union and the Public Patent Foundation (PUBPAT) and calls into question the validity of patents now held on approximately 4,000 human genes.

“Today’s ruling is a blow to the idea that patent law cannot impede the free flow of ideas in scientific research,” said Chris Hansen, a staff attorney with the ACLU Speech, Privacy and Technology Project. “Human DNA is not a manufactured invention, but a natural entity like air or water. To claim ownership of genetic information is to unnecessarily block the free exchange of ideas.”

The lawsuit against Myriad Genetics and the University of Utah Research Foundation, which hold the patents on the genes, charged that the challenged patents are illegal and restrict both scientific research and patients’ access to medical care, and that patents on human genes violate the First Amendment and patent law because genes are "products of nature."

“As the dissent from today’s decision explains, pieces of the human genome are not patentable,” said Daniel B. Ravicher, executive director of PUBPAT and co-counsel in the lawsuit. “This is because no one ‘invents’ genes. Inventions are things like new genetic tools or drugs, all of which can be patented because they are not genes themselves.”

The specific patents the lawsuit challenged are on the BRCA1 and BRCA2 genes. Mutations along those genes are responsible for most cases of hereditary breast and ovarian cancers. Many women with a history of those cancers in their families opt to undergo genetic testing to determine if they have the mutations on their BRCA genes that put them at increased risk for these diseases. This information is critical in helping these women decide on a plan of treatment or prevention, including increased surveillance, preventive mastectomies or ovary removal.

One of the judges on the panel dissented in part with the decision, writing that patents on the genes should be invalid. “…[E]xtracting a gene is akin to snapping a leaf from a tree,” Judge William C. Bryson of the U.S. Court of Appeals for the Federal Circuit wrote. “Like a gene, a leaf has a natural starting and stopping point. It buds during spring from the same place that it breaks off and falls during autumn. Yet prematurely plucking the leaf would not turn it into a human-made invention.”

The lawsuit, Association for Molecular Pathology, et al. v. Myriad Genetics, Inc., was filed on behalf of breast cancer and women’s health groups, individual women, geneticists and scientific associations representing approximately 150,000 researchers, pathologists and laboratory professionals. Because the ACLU's lawsuit challenges the whole notion of gene patenting, its outcome could have far-reaching effects beyond the patents on the BRCA genes. Approximately 20 percent of all human genes are patented, including genes associated with Alzheimer's disease, muscular dystrophy, colon cancer, asthma and many other illnesses.

The patents granted to Myriad gave the company the exclusive right to perform diagnostic tests on the BRCA1 and BRCA2 genes and to prevent any researcher from even looking at the genes without first getting permission from Myriad. Myriad's monopoly on the BRCA genes makes it impossible for women to access alternate tests or get a comprehensive second opinion about their results. It also allows Myriad to charge a high price for its tests.

“The court has made the wrong decision for a woman’s health,” said Sandra Park, staff attorney with the ACLU Women’s Rights Project. “No corporation should be able to claim ownership of women’s own genetic information.”

Several major organizations, including the American Medical Association, the March of Dimes and the American Society for Human Genetics, filed friend-of-the-court briefs in support of the challenge to the patents on the BRCA genes. In addition, the United States Department of Justice filed a brief arguing that many of the gene patents issued by the Patent Office are invalid.

Attorneys on the case include Hansen and Aden Fine of the ACLU Speech, Privacy and Technology Project; Park and Lenora Lapidus of the ACLU Women’s Rights Project; and Ravicher and Sabrina Hassan of PUBPAT.

Today's decision can be found online at: www.aclu.org/womens-rights/association-molecular-pathology-et-al-v-myriad-genetics-inc-appeals-court-decision - or by clicking the above light blue link.

More information about the case, including an ACLU video featuring breast cancer patients, plaintiff and supporter statements and declarations and the legal complaint, can be found online at: www.aclu.org/brca

CONTACT: Robyn Shepherd (212) 519-7829 or 549-2666; media@aclu.org Read more!

Friday, July 22, 2011

An Open Letter to Myriad Genetics

Dear Patients and Providers,

As many of you know, Myriad Genetic Laboratories holds the exclusive patent for testing for mutations within the BRCA1 and BRCA2 genes. Among individuals at "high risk", their "Comprehensive" BRCA testing currently detects ~90% of all possible mutations (genetic changes). Among individuals at "high risk", the other ~10% of mutations (called large rearrangements) are missed with this technique alone. For most patients, testing for large rearrangements is a separate $700 test (called BART) that is often not covered by insurance.

Recent data released by Myriad suggests that these large rearrangement BRCA mutations are over-represented and account for a larger percentage of mutations than previously thought in some populations including Hispanics/Latinos. In addition, data from other groups suggests Myriad's "high risk" criteria do not accurately predict which patients are likely to carry a BRCA rearrangement mutation. Therefore, we are appealing to Myriad to include BART analysis in their standard BRACAnalysis for all patients, so that it will truly be the Comprehensive testing that they advertise.

Below please find the full text of an open letter to Myriad Genetics Laboratories re: BART testing. If you would like to sign on to this letter, please send a separate e-mail with your intent, and patient/provider affiliation to karina.brierley@yale.edu.

--------------------------------------------

July 22, 2011

Richard Wenstrup, MD

Chief Medical Officer

Myriad Genetic Laboratories

Dear Dr. Wenstrup,

Thank you for your data of July 11, 2011 demonstrating that a significant proportion of BRCA1 and BRCA2 mutations are not detected by your $3340 Comprehensive BRACAnalysis, but are only detected by ordering the additional $700 BART Analysis of BRCA1 and BRCA2.1 Your data demonstrate that the proportion of mutations detected only by BART is higher in patients of Latin American/Hispanic ancestry.1 This Hispanic population is one of the most rapidly growing ethnic groups in the United States and is disproportionately uninsured, underinsured, and at or below poverty levels.2,3 Therefore, this population is less likely to be able to access and afford the necessary, expensive, additional BART testing.

Dr. Wenstrup, we, the undersigned are asking Myriad to include BART analysis as part of your Comprehensive BRACAnalysis, effective immediately. As you know, most insurance companies do not cover the extra BART Analysis and most patients do not have this important testing. This means we are missing BRCA mutations in many patients, which is costing lives. Most patients cannot afford $700 out of pocket. Recent data indicate that your high-risk criteria do not predict which patients are carrying a BART mutation.4 All patients having Comprehensive BRCA testing also need BART analysis.

We note that Myriad’s 2011 Third Quarter Revenue report indicates that your company has enjoyed its best revenue and operating income results for any period in your history, with a 3rd quarter revenue of $102.4 million (13% increase compared to last year).5 We implore you to reinvest some of your earnings into incorporating BART analysis into your standard BRACAnalysis, so that it will truly be the Comprehensive testing you advertise.

Sincerely,

Ellen T. Matloff, MS, CGC

Rachel E. Barnett, MS, CGC

Danielle C. Bonadies, MS, CGC

Karina L. Brierley, MS, CGC

Pia Banerji Summerour, M.S., CGC

Andrea Schwerdt, RN, BSN, OCN

Jayne A. Murphy, M.S., CGC

Gina Cowing, MS

Sara Goldstein, MS, CGC

Danielle Piippo, MMS, PA-C

Tina Bartell, MS

Sumedha Ghate, MS

Andrea Paal, M.S.

Maureen Flynn, MS, LGC, MPH

Nancy Cohen, MS, CGC

Kristin Kalla, M.S., CGC

Dana Kostiner Simpson, MD

Brittany Burnett, MS, CGC

Sharanya Kumaravel, MS

Erin Ash, MS, CGC

Janey Youngblom, Ph.D., M.S.

Meghan Wayne, MS, CGC

Anna Newlin, MS, CGC

Susan Mecsas-Faxon, MS, CGC

Elena Strait, MS, CGC

Jessica Heinzmann, M.S.

Katherine S. Hunt, MS, CGC

Amy Thomas, MS

Lance Grau, MS, CGC

Mohamed Khalifa, MD

Catherine Ward-Melver, MD

Cheryl Cina, MS, CGC

Jennifer Stein, MS, CGC

Rebecca Yee, MS, CGC

Shannon Morrill-Cornelius, MS, CGC

Anneliese Gonzalez, MD

Michael D. Stone, MD

Niki Armstrong, MS, CGC

Shanna Gustafson, MS, MPH, CGC

Kelly Jo Hamman, MS, CGC

Chelsy R. Jungbluth, MS, CGC

Luba Djurdjinovic, MS

Erin Houghton, MS, CGC

Lindsey Morse, MS, CGC

Alissa Bovee, ScM, CGC

Murray L. Nusbaum, MD

Gayun Chan-Smutko, MS, CGC

Kara Bui, MS, CGC

William A. Fintel, M.D.

Robin King, MS, CGC

Josephine Wagner Costalas, MS

Kerry Kingham, MS, CGC

Saun Floyd, MS, CGC

Whitney Neufeld-Kaiser, MS, CGC

Carrie Koval, MS

Bridgette Aufmuth, MS, CGC

Stacey Miller, MS, CGC

Judith A. Durcan, MS, CGC

Erin Carney, MS, CGC

Kathy Morris, MSSW, LCGC

Dawn Lee, MS

Emily Smith, MS, CGC

Melanie S. Moshier, MS

Jennifer L. Czerwinski, MS, CGC

Stephanie Kozachek, MS, CGC

Kory Jasperson, MS, CGC

Jessica Lipschutz, M.S., C.G.C.

Cristi Radford, MS, CGC

Jessica Long, MS, CGC

Taya J. Fallen, MS, CGC

Carol Brudenell, MSN, RN, AOCN, CCRP

Sherry C. Grumet, MA, MS, CGC

Laura Colello, MS, CGC

Larry R. Glazerman, MD, MBA

Valerie Loik Ramey, MS, CGC

Mollie Lyman Hutton, MS, CGC

Debbie Pencarinha, MS, CGC

Cristina Ruiz, MS, CGC

Robin C. Schwartz, M.S., C.G.C.

Susan Donlon, MS, CGC

Heather L. Shappell M.S., CGC

Heidi Beaver, MPH, CGC

Christine Laronga, MD, FACS

Christina Bittner, MS, CGC

Linda Robinson MS, CGC

Janice Berliner, MS, CGC

Michelle Gilats, M.S.

Christine Rogness, MD, FACS

Lauren Bowling, MS

Christopher E. Mason, Ph.D.

Laura Esserman MD MBA

Julie S. Mak, MS, MSc, CGC

Christine Kobelka, M.Sc., CGC, CCGC

Nicola Stewart, MS, CGC

Amie Blanco, MS, CGC

Kate Loranger, MS, CGC

Melanie Baxter, ScM, CGC

Margo Thelander, MS, CGC

LaDonna Immken, MD

Gayle Simpson Patel, MS, CGC

Katherine Schneider, MPH, LGC

Emily Brown, MS, LGC

Elaine Hiller, MS, LGC

Shelley McCormick, MS, LGC

Irene Rainville, MS, PhD, LGC

Claire Healey, MS, LGC

Anu Chittenden, MS, LGC

Monica Dandapani, MS, LGC

Judy Garber, MD, MPH

Gemma Chandratillake, MS, MPhil, PhD

Janice Rinsky, M.S.

Sarah Jane Noblin, MS, CGC

Andrea E. Harbison, MS, CGC

Justin W. Leighton, MS

Elsa Reich, MS, CGC

Cathy M. Sullivan, MS, CGC

Bobbi McGivern, MS, CGC

Kristin DePrince Mattie, M.S.

Gillian W. Hooker PhD, ScM, CGC

Nadine Dumas, M.Sc., CCGC (CGAC)

Rachel Westman, MS

Masayo Niwa-Habibi, MS

Pat Himes, MS, CGC

Niecee Singer Schonberger, MS, CGC

Carrie Prochniak, MS

Sivya Twersky, MS, GGC

Lindsey Byrne, MS, CGC

Nichole Morman, MS, CGC

Seth Marcus, MS, LCGC

Kiana Siefkas, MS, CGC

Heather Hampel, MS, CGC

Jennifer Scalia Wilbur, MS, CGC

Sidra Shapiro Boshes, MS, CGC

Fiona M. Field, MS, CGC

C├ęcile Skrzynia, MS, CGC

Jilliane Sotelo, MS, LCGC

MaryAnn W. Campion, MS, CGC

Janice O'Connell, MS, CGC

Jennifer Burton, MS, CGC

Shawnia Ryan, MS, CGC

Angela Musial Fay, MS, CGC

Kim Horton RN, MS, CGC

Lindsay Dohany, MS, CGC

Kathleen D. Valverde, MS, CGC

Peggy Cottrell, MS, CGC

Marcia Jodah, MS, CGC

Nicole Mattila, MS, CGC

Tuya Pal, MD, FABMG

Karen Brown, MS, CGC

Maegan E. Roberts, MS, CGC

Jennifer Brzosowicz, MS, CGC

Leslie Aptekar, MS CGC

Camila Shanahan, MS, CGC

Jeanne Homer, MS

Robert Pilarski, MS, CGC, MSW, LSW

Susie Ball, MS, CGC

Alexandria M. Yonker, MS, CGC

Marvin Miller, MD

Rachel Nusbaum, MS, CGC

Michelle Lyons, MS, CGC

Diana C. Darcy, M.S., C.G.C.

Cecelia A. Bellcross, PhD, MS, CGC

Faith Callif-Daley, MS, CGC

Eric Hanson MD, MPH

Diana Moglia, MS, CGC

Melissa Gilstrap, MS, CGC

Colleen Tsikerdanos, M.S., C.G.C.

Erica Ramos, MS, CGC

Molly A. Brewer, DVM, MD, MS

Kristen Dieter, MS, CGC

Sara Svendsen, MS, LCGC

Elena Infante, MS

Thea A. Johnson, MS

Rebecca A. Madore, M.S., CGC

Karen S. Metzler, MS, CGC

Erica Blouch, MS

Beth Souders, MS, CGC

Scott T. Michalski, MS, LGC

Lisa Blazejewski, MS, CGC

Jamie C. Fong, MS, CGC

Amy Crunk, MS, CGC

Zipora Eckstein MS

Thereasa A. Rich, MS, CGC

Lori Ballinger, MS, CGC

Audrey Linn Schroeder, MS, CGC

Amanda Lamb, MS

Megan E. McKenna (Hooper), M.S., C.G.C.

Erin Dola, MS, CGC

Sarah Keilman, MS, CGC

Jess Cary, MS, RN, CGC

Christina A. Seelaus, MS, MA, CGC

William Foulkes, MD

Kasia J. Bloch, MS, CGC

Nisha Isaac, M.S., CGC

Teresa M. Blake, MS, CGC, LGC

Laura M. Tripi, MS, CGC

Sara Pirzadeh-Miller, M.S., CGC

Erin H. Steed, MS, CGC

Kristen Vogel, MS, CGC

Martha Thomas, MS, CGC

Kelli Swan, MS, CGC

Denise Marty, MS, CGC

Whitney L. Ducaine, MGC, CGC

Damini Desai, MS, CGC

Maureen May, MS

Scott M. Weissman, MS, LGC

Kami Wolfe Schneider, MS, CGC

Ronald L. Bauer, M.D., FACS

Andrea M. Bauer, MSN, NP-C, ANP

Additional signatures as of August 1, 2011

Donna D. Walgenbach, MS

Toni I. Pollin, MS, PhD, CGC

Heather Sellers, MS

Andrea Forman, MS, CGC

Cathy McCann, MS, CGC

Constance Gibb, MS, CGC

Matt Mealiffe, MD

Vinaya Murthy, MPH, MS, CGC

Shelly Galasinski, MS, CGC

Darnelle L. Dorsainville, MS, CGC

Shenela Lakhani, B.Sc., M.Sc.

Wendy Chung, MD PhD

Erin Hofstatter, MD

Nadine Tung, MD

Donna Russo, MS

Kristen Shannon, MS, CGC

Stephanie Diaz, MS, CGC

Catherine A. Corman

Michelle L. Morgan

Mary-Ann Sagnella

Alison Tainter

Leslie Phillip-Kellman

Candy Goldstein

Terry Stoller

Pamela Morris Watt

References:

1. Myriad Genetic Laboratories. BRCA1 and BRCA2 Prevalence Tables for Mutations Detected by Sequencing, the 5-site Rearrangement Panel (LRP) and the BRACAnalysis® Large Rearrangement Test (BART™) in High Risk Patients. Available at: http://www.myriad.com/lib/brac/BART-table-faq.pdf . Retrieved July 14, 2011.

2. U.S. Department of Health and Human Services: Office of the Assistant Secretary for Planning and Evaluation. Overview of the Uninsured in the United States: An analysis of the 2005 Current Population Survey Available at: http://aspe.hhs.gov/health/reports/05/uninsured-cps/index.htm#race . Retrieved July 14, 2011.

3. Lloyd Runser, Sabrina Eagan and Danielle Olds. The Uninsured and Underinsured. Available at: http://www.case.edu/med/epidbio/mphp439/Safety_Nets.htm . Retrieved July 14, 2011.

4. Shannon KM, Rodgers LH, Chan-Smutko G, Patel D, Gabree M, Ryan PD. Which Individuals Undergoing BRCAnalysis Need BART Testing? Cancer Genetics (in press)

5. Myriad Genetic Laboratories. Myriad Genetics Reports Fiscal 2011 Third Quarter Results. Available at: http://investor.myriad.com/releasedetail.cfm?releaseid=574140 . Retrieved July 14, 2011.

Read more!

Wednesday, July 20, 2011

Family History Crucial In Determining Cancer Risks

Ellen Matloff, director of cancer genetic counseling at Yale Cancer Center in New Haven, recently spoke at the Hadassah Women’s Chapter at Heritage Village. Her talk focused on the ten percent of people diagnosed with a cancer that is passed down through family lines, called germline mutations; who is most at risk for these cancers; the use of genetic counseling; and who should consider counseling. While people of Jewish ancestry have an increased risk factor for cancer that makes genetic counseling and testing that much more important, there is no ethnic group that is free of cancer risks, says Ms. Matloff.

Please click on the above light blue link for the full article and a list of risk factors that help determine whether a person is a candidate for genetic counseling. Read more!

Wednesday, June 15, 2011

Great Resource on the Facts About Ovarian Cancer

Click on the above light blue link to be redirected to the original article published in the Journal of the American Medical Association. Read more!

Smoking Cessation

Cigarette smoking continues to be the leading cause of preventable morbidity and mortality in the United States, causing approximately 443,000 premature deaths annually. Recent estimates show that about 20.6% of U.S. adults (46.6 million people) are current smokers. Smoking accounts for at least 30% of all cancer deaths and 87% of lung cancer deaths. Yet each day in the United States, approximately 3,450 young people between 12 and 17 years of age smoke their first cigarette, and an estimated 850 youth become daily cigarette smokers. This is unfortunate given that smoking is linked to a broad array of cancers including nasopharynx, nasal cavity and paranasal, sinuses, lip, oral cavity, pharynx, larynx, lung, esophagus, pancreas, uterine cervix, kidney, bladder, stomach, and acute myeloid leukemia. In addition, an estimated 8.6 million people suffer from smoking-related cerebrovascular disease, stroke, chronic bronchitis, emphysema, and gastric ulcers. On average, smokers die 13 to 14 years earlier than nonsmokers. The benefits of quitting smoking are tremendous:

Within 20 minutes - your heart rate calms down

Within 8 hours - there is more oxygen in your blood and mucous begins to clear out of your lungs, which makes breathing easier

Within 48 hours - things smell and taste better

Within 3 months - your blood circulation improves and your body is better able to fight infection

Within 9 months - less sinus congestion, wheezing, and shortness of breath

Within 1 year - your risk of dying from a heart attack is cut in half

After 5 years - you have much less of a chance of having a stroke

After ten years - your risk of developing lung cancer is cut in half

Moreover, the mathematics of quitting are clear: 365 days/year x $5.00/pack = $1825.00 for a pack per day smoker for a year 365 days/year x $10.00/pack = $3650.00 for a two pack per day smoker for a year 10 years = $18,250.00 for a pack per day smoker or $36,500.00 for a 2 pack per day smoker It is especially important that cancer patients and survivors quit smoking. A recent meta-analysis showed that 14-58% of cancer patients who were smoking at the time of diagnosis continued smoking after treatment. This is alarming because quitting smoking after initial diagnosis can:

Positively impact response to treatments (therapeutic radiology, chemotherapy, and surgery)

Decrease the likelihood that patients will develop second malignancies

Increase rates of survival

Importantly, there are several effective smoking cessation treatments. First line drug therapies include: nicotine replacement therapy (patch, gum, lozenge, nasal spray, and inhaler), bupropion SR (Wellbutrin XL, Zyban), and varenicline (Chantix). Of note, there is recent convincing research that dual nicotine replacement therapy (e.g., patch + lozenge) is a very safe and effective treatment regimen. It is essential that drug therapies be combined with counseling. There is a dose response curve for the amount of counseling time and the number of counseling sessions, such that a higher amount of contact time and a higher number of sessions are related to higher rates of abstinence from smoking. There is a new Smoking Cessation Service at Smilow Cancer Hospital at Yale-New Haven. This service provides individual counseling combined with a first line medication treatment. All care is highly personalized and tailored to the needs of the patient. After a thorough assessment, patients are typically followed for 4 to 9 individual sessions with multiple follow-up phone calls. Every effort is made to schedule smoking cessation treatment sessions so that they coincide with pre-existing cancer treatment appointments. Please feel free to contact the Smoking Cessation Service with patient referrals or any questions at (203) 688-1378. Read more!

Friday, April 22, 2011

DNA Ethical Dilemmas

"DNA Ethical Dilemmas" is an interactive online course from the New York Times Knowledge Network.

Taught by Amy Harmon, who won the Pulitzer Prize in journalism for her work on this subject, this four-week course will examine the ethical dilemmas posed by the new knowledge being gleaned from genetic technology. Guests will include people who have grappled with these dilemmas, for themselves or their families, and experts who can add perspective to the discussions.

During the first week, Ms. Harmon's live online Q-and-A session will feature the president of the NSGC, Karin Dent, discussing the role of genetic counseling. Katharine Moser, who has Huntington's Disease, will be the featured guest in the second week. In the third week the pros and cons of direct-to-consumer DNA testing will be addressed by Daniel Vorhaus, a lawyer in the field of genomics and the editor of the Genomics Law Report.

The course has self-paced lessons, written by Ms. Harmon, covering four modules of study. All course material can be accessed directly within the online course; even the live sessions are archived for later viewing for those unable to participate during that time slot. To learn more, and to register, go to:

http://www.nytimesknownow.com/index.php/dna-ethical-dilemmas/ Read more!

Joining FORCEs Against Hereditary Cancer - 6th Annual Conference

Save the Date!!

The Joining FORCEs 2011 conference will be held June 23-25, 2011 in Orlando, FL at the Hyatt Regency Grand Cypress. The conference welcomes anyone concerned about hereditary cancer: cancer survivors, high-risk individuals, those with a BRCA mutation or family history of cancer, and health care providers who treat high-risk patients.

Please click on the above light blue link for more information

Read more!

Would You Like to Know More About the Field of Genetic Counseling?

Join Sarah Lawrence for their 3rd Annual Genetic Counseling Summer Camp Program

When: June 6, 2011, 8:30 AM – 3:00 PM

Where: Sarah Lawrence College, Joan H. Marks Graduate Program in Human Genetics, Bronxville, NY.

In 2009, responding to the need expressed by college students for genetic counseling shadowing experiences, the Human Genetics Program organized the First Annual Genetic Counseling Summer Camp. Ten genetic counselors joined Sarah Lawrence HGP faculty to host 18 undergraduate students from the northeast region to teach them more about the field of genetic counseling. The camp included a panel discussion of genetic counseling roles, a Q&A session, case presentations, and 15-minute speed sessions with individual counselors. The program was well-received. Forty-five students attended the second program, held June 2010. Twenty faculty members supported the program, helping to spread knowledge about genetic counseling.

At the Sarah Lawrence Genetics Summer Camp, people receive information. For most of our attendees, their primary exposure to the field of genetic counseling comes by way of internet research, and our Genetics Summer Camp provides them an opportunity to gather information in a neutral environment. At our camp, individuals are exposed to the various branches and issues of genetic counseling. More importantly, however, attendees get to meet recent graduates and practicing genetic counselors. This person-to-person contact gives our attendees invaluable insight into the field of genetic counseling, along with the opportunities available to graduates with a Master of Science in Genetic Counseling. We could go on, but we feel that some of our most recent attendees explain it best:

“Thank you for the opportunity; I can't explain how positive my experience was. I really feel confident that I know what genetic counseling is all about and feel completely confident that I know what I'm getting myself into.”

“Thank you for the effort you put into organizing this event and for the number of people you brought to represent the profession. It answered so many of my questions which would have otherwise taken me so long to accumulate. It also opened my eyes to aspects of the profession that I was previously unaware of. Many, many, thanks.”

“[What did I enjoy the most about the summer camp?] Meeting SO many graduates, hearing their inspiring stories and seeing the amazing campus of the first school to offer a Master's in Genetic Counseling. On top of everything, I never felt pressured into applying to Sarah Lawrence College, which just makes it an even more appealing place to me.”

Contact: Ms. Caroline Lieber, MS, CGC

Director, Human Genetics Program

Sarah Lawrence College

Bronxville, NY 10708

914-395-2605

clieber@slc.edu

Read more!

Saturday, April 16, 2011

Genetic counseling is critical to determine which genetic test is most appropriate for your family and ensuring proper test result interpretation

Click the above light blue link to view the full video interview with Colleen Carroll and Genetic Counselor Ellen Matloff, MS.

From NBC's website....

"Colleen Carroll’s younger sister Kelly died at the age of 33 from ovarian cancer.

"I always say, I think my sister saved my life because if it weren’t for her, I wouldn’t have been so vigilant about keeping an eye on my own health," said Carroll.

Kelly’s death prompted Colleen to get checked for the disease, and at first, she was cleared. When both her cousin and her uncle were told they had cancer, however, she sought genetic testing and counseling. The results concluded the family suffered from Lynch Syndrome.

"It involves colon cancer, uterine, ovarian and some skin cancers, which my family has had as well," said Carroll.

It turns out the test that cleared her of ovarian was the wrong one and after another genetic test was performed, Carroll received different results.

"At age 36, I was diagnosed with ovarian cancer," said Carroll.

Dr. Ellen Matloff, of Smilow Cancer Hospital at Yale-New Haven said, although the Carroll family lost loved ones in their diagnosis process, lives have been saved.

"This genetic testing is really a relatively new field that has emerged and it allows us to determine why in a single family, there may be multiple cases of cancer," explained Matloff.

Carroll said both of her nieces, Erika and Jessica, are carriers of the mutated gene, but they will be regularly monitored to catch the disease if it develops.

Dr. Matloff added that there has never been more hope in cancer research.

"We now have medications that are tailored to people who have a genetic mutation and we are very hopeful this new wave of personalized cancer care is going to revolutionize cancer treatment," explained Matloff.

She also encouraged those who may have a personal or family history of early-onset cancer to seek testing and emphasized the importance of early detection.

Carroll said her sister’s death forced her to take control of her life and added, "there’s a sense of relief for me, why I got cancer and why everybody got cancer."" Read more!

Wednesday, April 6, 2011

The 2010 legal decision that human genes are a product of nature and cannot be patented comes under attack

An excerpt from Genomeweb (http://www.genomeweb.com//node/965653?hq_e=el&hq_m=974159&hq_l=1&hq_v=a77f307b11)

"NEW YORK (GenomeWeb News) – A US federal circuit court heard oral arguments yesterday from Myriad Genetics, the American Civil Liberties Union, and the Department of Justice in a case about gene patenting that could have a wide impact on the genomics and molecular diagnostics business and research fields.

Myriad Genetics on Monday argued in the US Court of Appeals for the Federal Circuit in Washington, DC, that its patent claims on BRCA genes, which it uses in its BRACAnalysis test for predicting individual breast and ovarian cancer risk, are in accord with US patent law.

ACLU lawyers countered by claiming that human genes are a product of nature and cannot be patented — a position that was upheld last year by a judge in a US District Court in New York in the same case, the Association of Molecular Pathologists vs. the US Patent and Trademark Office. (Upon its request, USPTO was relieved from defending the case by the NY court.)

The case landed in the circuit court today after Myriad appealed the ruling of Judge Robert Sweet of the Federal District Court for the Southern District of New York."

Click on the above light blue link to be directed to the full article Read more!

Monday, April 4, 2011

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

Pharoah PD, et al. Clin Cancer Res. 2011 Jun 1;17(11):3742-50. Epub 2011 Mar 8

An assay for a single nucleotide polymorphism (SNP) in a 3′UTR miRNA binding site of the KRAS gene has recently been commercially marketed as a clinical test to aid epithelial ovarian cancer (EOC) risk assessment in women with family histories of the disease. The justification for use of this assay was based on one published paper which analyzed fewer than 1,000 subjects in total, including only 67 EOC cases carrying BRCA1 mutations or with family histories of EOC. The present report found no association between this SNP and ovarian cancer risk among 8,669 cases of unselected invasive EOC and 10,012 controls, or in 683 cases and 2,044 controls carrying BRCA1 mutations. The results suggest that evaluation of this SNP is not clinically useful for risk prediction in sporadic or familial ovarian cancer. Read more!

Thursday, March 10, 2011

Advanced Colon Cancer at age 21 - Not your Average College Experience

Listen to the most recent "Cancer Bytes" where Nathan tells his story of being diagnosed with colon cancer at age 21.

Click on the above blue link to listen to Nathan's story. Read more!

The Hope Chest Receives Donation to Support Genetic Research

Nathan Shatsoff presents Ellen Matloff, MS, Director of the Yale Cancer Center Cancer Genetic Counseling Program, with a $4,000 check to support The Hope Chest fund. Click on the above blue link for the full story.

Nathan Shatsoff was a healthy, athletic college student who was enjoying life. He got a bad cold and cracked a rib from coughing. He became concerned when the ache in his side didn’t go away, and went to a local doctor for a check up. Nathan, his doctor, and his entire family were beyond shocked when he was diagnosed at the age of 21 with stage IV colon cancer. He described the diagnosis as being very lonely, as this disease is mostly reserved for people much later in life. Two years after his diagnosis, Nathan is approaching his 50th treatment with chemotherapy. Nathan has the most advanced case of colon cancer any doctor he has been to has seen in such a young person. However, his prognosis and treatments have not stopped him from fighting against cancer for himself, his family, and future patients.

Nathan’s diagnosis led his family to delve into their family’s history and they learned of an extensive history of colon cancer and pre-cancerous colon polyps at young ages. This led to the realization that this pattern was likely hereditary. Nathan’s sister contacted Ellen Matloff, MS, Director of the Cancer Genetic Counseling Program at Yale Cancer Center and set up a meeting to discuss this possibility. Ms. Matloff has collected DNA samples from multiple generations of the family and Dr. Allen Bale, Professor of Genetics, is analyzing these samples with the latest technologies in search of the mutation causing these cancers.

Nathan is also hard at work. With the support of his family, Nathan founded the organization RELENTLESS Against Cancer, a federally recognized 501(c)(3) non-profit corporation dedicated to raising money to donate to specific hospitals and practices working to develop new treatments as well as early detection methods.

“The fight against cancer is something that must be renewed each and every day,” said Nathan. “Every day you wake up is a chance to make a difference. While the ultimate goal cannot be accomplished in one day, every day we are closer to making it a reality. Our efforts must be tireless, they must be RELENTLESS, and this is the reason I started this organization, for my family and future patients.”

Recently, Nathan donated the proceeds from a fundraiser to The Hope Chest fund at Yale Cancer Center. The Hope Chest fund was created to ensure that genetic counseling, and the hope of early detection, risk reduction, prevention, and cutting-edge research, will be passed on to the next generation. Nathan and his family hope to make people understand that not everyone diagnosed with cancer will either undergo surgery or a few months of treatment and either be cured or pass away from the disease.

“My ultimate goal is to help in any way I can with cancer research so one day no one will ever have to endure what I have,” Nathan said.

To learn more about RELENTLESS Against Cancer, or to find out how you can donate, please visit www.relentlessagainstcancer.com

Read more!

Thursday, March 3, 2011

Dr. Spencer Well to Present at the Garde Arts Center in New London, CT

Dr. Spencer Wells, director of National Geographic’s Genographic Project, is presenting at the Garde Arts Center in New London on Friday, March 11 at 7:30 p.m. as part of the “Faces of Our Planet” series. Dr. Wells’ pioneering research in genetics and human diversity is sure to interest you and Yale University Genetics students. The student rate is only $10 and more details can be found on the event website (click on the above light blue link to be redirected).

The Genographic Project uses DNA from participants around the world to document and create the first-ever map of human migration, showing how humans came to populate the planet after leaving Africa some 60,000 years ago. The project demonstrates that -- in all of our diversity -- our shared DNA makes us truly connected.

Dr. Wells has been a guest on The Daily Show and TODAY, and has also been a presenter at a renowned TED Conference. Read more!

Wednesday, February 9, 2011

Dr. Janet Davison Rowley

An interview with Dr. Janet Davison Rowley, who discovered that broken and translocated chromosomes were a factor in blood cancers. Click on the above light blue link to be directed to the article. Read more!