More Information to Consider About Genetics and Breast Cancer

Posted by The Evidence Blog on October 28, 2014

Deciding who should be screened for the BRCA1 and BRCA2 gene variants that increase the risk of breast and ovarian cancer became a bit more complicated recently after Dr. Mary-Claire King, the scientist who discovered the BRCA1 gene, made the bold recommendation that all adult women should be screened for these variants beginning at age 30. In contemporary clinical practice, healthcare providers generally recommend BRCA1 and BRCA2 screening based on personal and family history and ancestry. Dr. King, however, asserts that screening the general population is a better way to identify women who are BRCA1 and BRCA2 carriers so that healthcare providers can better monitor them and deliver early intervention to reduce their cancer risk.

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Topics: Hayes Blog, Genetic Testing

Opening the Pandora’s Box of Genetic Information

Posted by The Evidence Blog on June 12, 2014

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program

It is an exciting time to be working in genetics. The Human Genome Project took 15 years and $3 billion to generate the first sequence of the human genome (a genome is the complete set of genetic information for an organism) but rapid advances in technology have reduced the time requirement to a few days and the cost to less than $1000. This means that having your genome sequenced is now a very real option. The problem? Our knowledge and understanding of the medical implications of the vast majority of sequence variants – any change from the “normal” or “expected” DNA sequence at any given place in the genome – has not kept pace with our technical ability to detect them. Consequently, tested individuals will often be faced with information of uncertain clinical significance after having their genomes sequenced.

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Topics: Hayes Blog, Genetic Testing

Real-Life Implications for Misinterpretation of Direct-to-Consumer Genetic Testing Results

Posted by The Evidence Blog on May 28, 2014

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program

Hayes has commented several times on this page regarding the potential negative implications of direct-to-consumer (DTC) genetic testing. You can read our most recent blog on this topic here.

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Topics: Hayes Blog, Genetic Testing

Is Gene Editing the Future of Gene Therapy?

Posted by The Evidence Blog on March 11, 2014

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing

As reported this week in the New England Journal of Medicine, researchers at the University of Pennsylvania have invented a new method that successfully and safely “edited” a key gene involved in HIV infection and decreased the level of HIV DNA in the blood of most of the patients enrolled in the small phase I clinical trial.

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Topics: Hayes Blog, Genetic Testing

IOM Discusses Challenges Associated with Using Genomic Sequencing for Clinical Purposes

Posted by The Evidence Blog on February 6, 2014

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing

On February 3, 2014, I had the privilege of attending an Institute of Medicine (IOM) roundtable titled Assessing Genomic Sequencing Information for Health Care Decision-Making. This meeting, held in Washington, DC, brought together a wide range of stakeholders with the primary goal of identifying key challenges related to the use of high throughput sequencing technology for clinical purposes and suggesting pragmatic approaches to address those challenges.

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Topics: Hayes Blog, Genetic Testing

Patients-in-Waiting—an Unintended Consequence of Genetic Screening

Posted by The Evidence Blog on December 23, 2013

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing

A recent article in The Wall Street Journal (WSJ) drew attention to a little-known unintended consequence of genetic screening, including, but not limited to, newborn screening: patients who test positive for presumably pathogenic genetic variants but who have no clinical symptoms of the associated disease. The article refers to these patients as “patients-in-waiting.”

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Topics: Hayes Blog, Genetic Testing

FDA orders 23andMe to cease and desist—is this the beginning of the end for direct-to-consumer genetic testing?

Posted by The Evidence Blog on December 4, 2013

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing

In a letter dated November 22, 2013, the Food and Drug Administration (FDA) ordered the direct-to-consumer (DTC) genetic testing company, 23andMe, to immediately stop marketing the company’s Personal Genome Service (PGS) until the FDA authorizes the use of the test as a medical device. You can read the full text of the letter here.

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Topics: Hayes Blog, Genetic Testing

Reimbursement for Molecular Tests – The Controversy Continues

Posted by The Evidence Blog on November 27, 2013

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing

In an October 30, 2013, letter to Marilyn Tavenner at the Centers for Medicare & Medicaid Services (CMS), representatives of the American College of Medical Genetics and Genomics (ACMG), American Society for Clinical Laboratory Science (ASCLS), American Society for Clinical Pathology (ASCP), American Society for Histocompatibility and Immunogenetics (ASHI), Association for Molecular Pathology (AMP), and College of American Pathologists (CAP) outlined a number of concerns regarding the Palmetto Molecular Diagnostics (MolDX) Services Program and Medicare coverage of molecular pathology procedures. Among other concerns, these professional societies expressed dismay over the apparent lack of transparency of the technology assessment process that is part of the MolDX program. The full text of the letter to Ms. Tavenner can be found here.

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Topics: Hayes Blog, Genetic Testing

Will the FDA Move to Regulate Laboratory-Developed Tests?

Posted by The Evidence Blog on July 11, 2013

In an editorial published on July 7, 2013, the New York Times called for the Food and Drug Administration (FDA) to issue guidelines for the regulation of laboratory-developed tests (LDTs). LDTs are defined by the FDA as tests that are developed by a single laboratory for use only in that laboratory. Although the FDA acknowledges that laboratories that develop LDTs are acting as manufacturers and are subject to FDA jurisdiction, the agency has historically exercised enforcement discretion over LDTs. Essentially, this means that the FDA looks the other way when it comes to LDTs. This was reasonable when most LDTs were single-analyte, easily reproducible assays. In recent years, however, manufacturers have exploited the LDT classification to avoid FDA regulation of sophisticated tests that, in many cases, require complex and proprietary computer algorithms to generate results. Increasingly, these results are being used for clinical decision making and disease management. An example of a complex LDT that is currently widely used is the Oncotype DX breast cancer assay, a multigene expression test designed to provide prognostic information about breast cancer recurrence. Despite the complexity of the Oncotype DX assay and the serious implications of its use (i.e., determining whether or not adjuvant chemotherapy should be used based on the results of the test), this assay has not undergone FDA approval and is marketed as an LDT. The New York Times editorial draws attention to another test, OvaSure, which was designed to detect ovarian cancer at an early stage but was found to be inaccurate after its 2008 release and was pulled from the market 4 months later. The newspaper reports that the FDA, recognizing the need for increased oversight of LDTs, has prepared a draft guidance on how such tests should be regulated but the document has been stalled somewhere within the agency.

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Topics: Hayes Blog, Genetic Testing

Supreme Court Rules that Genes Are not Patentable!

Posted by The Evidence Blog on June 13, 2013

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing

Today, the 9 Justices of the Supreme Court ruled unanimously that human genes are not patentable in the case of Association of Molecular Pathology V. Myriad Genetics. In ruling that a gene constitutes a “product of nature,” which is not eligible for patenting, the Justices have issued a decision that will change the face of genetic testing in the United States. As Justice Clarence Thomas wrote in the opinion, “It is undisputed that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes. The location and order of the nucleotides existed in nature before Myriad found them. Nor did Myriad create or alter the genetic structure of DNA.” The decision effectively invalidates not only far-reaching patents on the BRCA1 and BRCA2 genes held by Myriad Genetics but also calls into question other similarly broad patents on other human genes. This is a major victory for the plaintiffs in the case, which include the Association for Molecular Pathology (AMP), American College of Medical Genetics and Genomics (ACMG), American Society for Clinical Pathology, College of American Pathologists, and other healthcare organizations and individuals. More importantly, the ruling is also a major victory for patients, who will now have choices related to who performs their genetic testing and options to seek second opinions from independent laboratories.

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Topics: Hayes Blog, Genetic Testing

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