By Kirell Lakhman

As expected, the HHS Secretary's Advisory Committee on Genetics, Health, and Society today voted to urge HHS Secretary Kathleen Sebelius to prevent gene patent holders from protecting their innovations by making it impossible to sue certain parties for patent infringement.

The SACGHS' recommendations, released one day after gene patents began their defense in another arena, is noteworthy not only for the threat to patient care they would engender, but for the cavalier way their authors support their decision.

As reported today in Sample sister publication GenomeWeb Daily News, the panel formally recommended "creating a specific statutory exemption from infringement liability for genetic tests that use genes patented by another party, and another exemption for scientists who wish to use patent-protected genes for research."

The group's decision, which comes four months after it released a similarly worded draft, also seeks to create "an advisory body to measure the health impact of gene patents and licensing," according to GenomeWeb.

Such is the wisdom of the committee that it recommends killing the practice of gene patenting before allowing its advice to be tested, even as it admits that it ought to be. Imagine other components of our legal system that are similarly stripped of the presumption of innocence.

SACGHS' final report, which is expected to be sent to Sebelius "soon," would also inevitably put many patients at risk. According to the GenomeWeb report, the recommendation is "narrowly tailored and only applied to diagnostic use of gene patents in the context of patient care."

Ironically this is precisely the corner of the debate that threatens patients most: Stripping the prospect of reward from the guarantee of risk will cause investors to look elsewhere, thus depriving vendors the capital to develop tests and clinical labs the assays to grow menus and guide therapy.

Hope lies with Sebelius having more sense than her advisors.

By Kirell Lakhman

Sequenom today said it has launched its SensiGene fetal RHD genotyping test for use in first-trimester pregnancies, which it says is better than real-time PCR assays that test for similar abnormalities.

The test, which will be performed in the company's CLIA-certified Sequenom Center for Molecular Medicine, is designed to "detect circulating cell-free fetal DNA from maternal blood and examine multiple regions of the gene that are known to be the most common genetic basis of RhD negative phenotypes," the company said in a statement.

According to Sequenom, in the US there are approximately 528,000 pregnancies in Rhesus D-negative women every year, "and almost all of these women could benefit from an assessment of the RhD type of the fetus."

However, according to some studies, while in Caucasian women around 1 in 10, or around 600,000, of all pregnancies are in a Rhesus-negative woman with a Rhesus-positive baby, it is believed to be "very rare for the first Rhesus-positive baby of a Rhesus-negative woman to be affected by Rh disease."

Many non-Caucasian populations have a very low proportion who are Rhesus negative, so the incidence of Rh disease is very low in these populations.

The assay, which is the first to be run on its SEQureDx technology, will be performed on Sequenom's MassARRAY mass-spec genotyping platform. It is designed to interrogate four targets within three exons located on the RHD gene on chromosome 1, and incorporates male-specific targets on the Y chromosome because Rh alloimmunization has been shown to occur more frequently in male fetuses.

The test also includes a quality-control metric "to ensure detection of DNA," while a fetal identifier control is further employed as a reflex control assay "that detects fetal DNA in a sample within a large background of maternal DNA," Sequenom said.

In clinical trials its sensitivity was 97.2 percent with a 95-percent confidence interval, while its specificity was 96.9 percent with a 95-percent confidence interval.

"Fetal RHD genotyping utilizing real-time PCR has been widely used in Europe for over a decade, and has led to better patient management and is even considered for reduction of unnecessary treatment with anti-D immune globulin," Wolfgang Holzgreve, director at the University Hospital in Freiburg, Germany, and a Sequenom clinical advisory board member, said in the statement.

"Based upon Sequenom's validation study, the SensiGene Fetal RHD Genotyping test appears to offer a higher level of sensitivity and specificity compared with the real-time PCR methodology," he said.

Additional information about the test can be found on the Sequenom Center for Molecular Medicine's web site.

By Kirell Lakhman

The head of Myriad Genetics' lab business will retire, the company said yesterday, according to a report in the Associated Press.

Greg Critchfield, who has been with the Salt Lake City-based company for 11 years, "will retire … to focus on philanthropy."

He will be replaced by Mark Capone, chief operating officer of the unit. Capone, who has been with Myriad for more than seven years, has been responsible for managing its sales force and laboratory operations.

Meantime, a story in Business Week online said yesterday that Myriad director Mark Skolnick will step down from the board, "but will remain with the company as a part-time employee in the capacity of senior scientist emeritus." He has been a director of the company since 1991.

The departures were reported as part of the company's fiscal second-quarter earning release. Here's a GenomeWeb News brief on that report, as well as its article on the latest development in the ACLU's lawsuit against Myriad and the US Patent and Trademark Office over its BRCA1 and 2 gene patents.

By Kirell Lakhman

ACLA and Results for Life recently briefed officials at Carefirst Blue Cross and Blue Shield in Baltimore about "the value and importance of genetic testing," according to ACLA.

File this one away as another step in helping to encourage third-party payors to continue reimbursing emerging clinical molecular diagnostics.

At the Carefirst session, which took place Jan. 18, ACLA said it "outlined the science underlying genomics and genetic testing, as well as the importance of such tests in improving diagnosis and care for a range of conditions, including birth defects, adult leukemia, heart disease and breast cancer."

RFL, which is "spearheaded" by ACLA, calls itself an "educational campaign promoting the value of laboratory testing being conducted by a coalition of clinical laboratories, physicians and professional laboratorians, and diagnostic test manufacturers."

Presenting at the session were Gene Dx co-founder Sherri Bale; Vicky Pratt, chief director of Molecular Genetics at Quest Diagnostics; Kaye Jones, director of Corporate Coding Resources at LabCorp; and David Mongillo, vice president for Policy and Medical Affairs at ACLA.

The group highlighted what it termed "emerging technologies and testing," including high-throughput DNA sequencing, microRNAs, copy-number variants, epigenetics, methylation, and proteomics.

Among the technologies it discussed were next-gen sequencer made by 454 and Illumina; single-stranded RNA molecules, which it said "may enable classification of cancers of unknown primary [and] determine therapy.

By Kirell Lakhman

Staffers in the Bill Clinton White House have always considered themselves to be a tight-knit family.

Some of them are tighter than they think.

Last Friday George Stephanopoulos, Clinton's senior advisor on policy and strategy during the president's first term, "may be genetically linked" to Hillary Rodham Clinton, according to a news report.

Stephanopoulos, who is currently co-anchor of ABC News' Good Morning America program, underwent DNA testing to promote the PBS television series "Faces of America With Henry Louis Gates Jr.," which will premiere Feb. 10.

According to the Charlotte Observer in North Carolina, Stephanopoulos, 48, "learned of his possible link to Clinton during Friday's Good Morning America show.

"I'm getting a little nervous here," he said before Gates gave him the news.

"You are very likely a maternal cousin with Hillary Clinton," who is the current Secretary of State, Gates told him.

"You're putting me on," Stephanopoulos said. "Sorry, Secretary Clinton. I did not set this up."

Gates said "as far as we know," Clinton hasn't been tested.

By Kirell Lakhman

The ACLU and the not-for-profit Public Patent Foundation on Wednesday issued a statement reminding us that the AMP v. Myriad Genetics gene-patent lawsuit is slated to readjourn next Tuesday, when Judge Robert Sweet of the Southern District of New York will hear oral arguments for all summary judgment motions.

As is well known by now, the plaintiffs in the case are asking the court to "rule that patents on two human genes associated with breast and ovarian cancer are unconstitutional and invalid." They are also seeking to outlaw gene patenting wholesale.

The patents in the case support the BRCA1 and 2 genes, which are owned and exclusively used by Myriad Genetics to help oncologists identify women who carry them. Such women are at much higher-than-average risk of developing the disease over the course of their lifetime.

In its statement, ACLU "charge[s] that [Myriad's BRCA] patents stifle diagnostic testing and research that could lead to cures and that they limit women's options regarding their medical care."

Readers of this space by now know I disagree with this premise.

ACLU's statement also lists "[s]everal major organizations" that support its cause, among them the American Medical Association, the March of Dimes, and the American Society for Human Genetics. All three have filed amicus briefs with the court.

'More Than Patents'

But today, the non-profit Genetic Alliance also weighed in on the issue. In its statement, the group writes it has also "recently filed an amicus brief in this case "opposing the plaintiffs' positions."

Genetic Alliance "looks forward to the court's consideration of summary judgment motions in the gene patent case," and said it filed the brief "not only because we disagree with the plaintiffs' factual and legal positions but, more importantly, because the plaintiffs are making demands that would, if adopted by the court, undermine genetic and biotechnology advances urgently needed by patients."

(Full disclosure: Genetic Alliance and GenomeWeb, The Sample's parent company, share a director.)

The case also comes with some unintended duplicity in the form of a position statement AMP released yesterday that used similar "patient safety" and pro-innovation language in an entirely different issue threatening clinical labs.

That statement, which I covered yesterday, decried overly burdensome federal testing regulations (a position I happen to agree with) but missed the corollary that existing patent regulations in this country also ensure patient safety and protect innovation by enabling academia and industry to take financial risks to develop clinical molecular diagnostics that are used every day in nearly every clinical lab.

Indeed, according to CMS between 70 percent and 80 percent of all physician decisions in the US are based on lab tests — some of which are gene-based, and all of which are protected by the USPTO.

According to Genetic Alliance's statement, AMP's case against Myriad and the USPTO "involves more than patents on specific breast cancer gene sequences. In fact, plaintiffs are calling for the wholesale abolition of all gene patents. This attack is so broad that if the courts were to uphold it, tens of thousands of patents on not only gene sequences but also biologic drugs, vaccines, and tests would be threatened.

"The legal mess resulting from weakening or abolishing patent protections would be enormously disruptive to the complex process of translating basic science discoveries to clinical applications," Genetic Alliance adds. "Patent protections for biomedical innovations are essential to attract the enormously risky investments needed to create diagnostic tests and treatments."

The group concludes by saying that it "entered this case to give voice to the individuals and families who desperately need medical innovations." In fact, its CEO, Sharon Terry, knows first-hand the utility of such tests, and in fact holds a patent protecting a gene that is responsible for a condition both of her children developed. That disease, PXE, is a rare genetic disorder that could lead to blindness, cardiovascular disease, and other problems.

When she received her children's diagnosis, Terry said she collaborated with scientists in the hopes of finding the gene responsible for the disease. Having found it, she became a co-inventor of the patent on the gene sequence responsible for PXE. She has since given her rights to the patent to the non profit PXE International foundation. So much for any cries of conflict-of-interest.

"Our nation's laws [must] strike the difficult balance of encouraging innovation and ensuring quality and accessibility for tests and treatments. Incentives — social, financial, and legal — are crucial to protect and advance medical discoveries all the way through the development cycle — from basic research through commercialization of products," according to Genetic Alliance. "This cycle must be accelerated, and we therefore oppose the broad abolition of all gene patents sought by the plaintiffs in this case."