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Dx Digest: Invitae builds out cancer and epilepsy testing menus; Illumina gets in on autism research

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Welcome to Dx Digest, where FierceMedicalDevices highlights the highs and sometimes lows of the past week in the diagnostics industry. Invitae expanded its hereditary cancer and epilepsy test menu, moving the company closer to achieving its goal of surpassing 1,000 genes by mid-2016. Sequencing giant Illumina announced that it would join forces with the Hartwell Foundation's Hartwell Autism Research and Technology Initiative (iHART) to build the largest shared genomic database for autism, potentially spurring biomarker discovery. And Thermo Fisher Scientific gained more traction in the companion diagnostics realm, striking a deal with pharma titans Novartis and Pfizer to create a next-generation sequencing (NGS) test for non-small cell lung cancer (NSCLC) drugs. Read on for the details. And as always, feel free to contact us with any comments or questions. -- Emily Wasserman (email | Twitter)

Invitae dials up testing menu with new cancer and epilepsy offerings

Last month, Invitae ($NVTA) announced that it would double its testing menu to include more than 600 genes, with tests covering a wide range of conditions including hereditary cancer, cardiovascular disease and neuromuscular disorders. Now the company is building on that momentum, unveiling expanded testing menus for hereditary cancer and epilepsy.

The San Francisco-based company's hereditary cancer testing will now include panels for blood, bone, brain, endocrine, renal/urinary tract, prostate cancer, sarcoma and skin cancers, all at the same price that Invitae offers for its other tests. Earlier this year, Invitae slashed prices for its full menu of genetic tests, offering its tests for $950 to payers who have contracts with the company. The company also laid out a patient price of $475 for individuals who couldn't afford or are not eligible for insurance. Out-of-network and third-party payers pay $1,500 for the tools.

"Invitae is committed to providing genetic testing in the most medically-responsible way," CMO Robert Nussbaum said in a statement. "With responsible, guidelines-based medical practice and Invitae's expanded cancer menu, clinicians are able to provide patients and providers with testing that is relevant to the diagnosis of an even great number of hereditary cancer syndromes."

In addition to its new hereditary cancer offerings, the company is rolling out a bigger epilepsy test menu. The panel will now include more than 100 "carefully curated genes," and doctors can pick and choose tests to identify the genetic underpinnings of the condition and select treatment, Invitae said in a statement. Statement | More

Illumina lends cloud-based data platform to autism genomics initiative

Hot on the trail of research deals, Illumina ($ILMN) is teaming up with the Hartwell Autism Research and Technology Initiative (iHART) to help build the largest, open-access hub of bioinformatics data on autism. The San Diego, CA-based company will lend its BaseSpace data analysis and management platform to the project, allowing researchers to quickly analyze information on the cloud and look for variations in 5,000 genomes from individuals with autism and their families, Illumina said on its website.

Dr. Dennis Wall, a leading autism researcher at Stanford University School of Medicine, and Dr. Dan Geschwind, a distinguished professor of neurology, psychiatry and humans genetics at UCLA, will lead the project, mining the data and setting the stage for "major, clinically useful discoveries in the near future," Wall said.

"The complexity of autism requires big data scientific initiatives like this that are openly accessible and act as a sandbox in which all qualified researchers can play," Wall said on the website. "Ultimately we hope our effort will help define the forms of autism and bring sufficient clarity for marker development and much more." More

Thermo Fisher inks deal with Pfizer, Novartis for lung cancer companion Dx

Thermo Fisher Scientific ($TMO) is no stranger to companion diagnostics deals, teaming up last year with GlaxoSmithKline ($GSK) and Pfizer ($PFE) to develop a companion test for solid tumors across multiple drug programs. In its latest move, the company is working with Big Pharma players Novartis ($NVS) and Pfizer to create and commercialize a multi-marker, NGS test for non-small cell lung cancer meds.

A "one-size-fits-all" approach to drugs isn't the norm anymore, Thermo Fisher said in a statement, and there's a growing demand for tools that allow doctors to match cancer patients with specific treatments. As part of the long-term deal, the Carlsbad, CA-based company and its pharma peers will develop a product that tests for multiple genes simultaneously from a single sample, marking a "significant step forward in realizing the promise of precision medicine," Mark Stevenson, president of life sciences solutions for Thermo Fisher, said in a statement. Statement