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Clinical Laboratories and Pathology Groups

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Clinical Laboratories and Pathology Groups

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Collaborative Global Study Casts New Light on Breast Cancer’s Genetic Roots; Will Soon Provide Anatomic Pathologists and Clinical Laboratories with New Tools to Diagnose and Treat Cancer

In the same way that BRCA1 and BRCA2 mutations helped pathologists identify women with increased breast cancer risks in the late 1990s, this new study isolates an additional 72 mutations medical laboratories may soon use to diagnose breast cancer and assess risk factors

For 20 years genetic scientists, anatomic pathologists, and medical laboratories have employed the BRCA1/BRCA2 genes to identify women at higher risk for breast cancer. And, because pathologists receive a high number of breast biopsies to diagnose, physicians and clinical laboratories already have collaborative experience working with genetic mutations supported by ample published evidence outlining their relationship with cancer.

Now, a global research study is adding 72 more mutations to the list of mutations already known to be associated with breast cancer.

In coming years, physicians and anatomic pathologists can expect to use the knowledge of these 72 genetic mutations when diagnosing breast cancer and possibly other types of cancers in which these mutations may be involved.

New Precision Medicine Tools to Improve Breast Cancer Survival

Combining the efforts of more than 550 researchers across 300 institutions and six continents, the OncoArray Consortium analyzed the DNA of nearly 300,000 blood samples. The analysis included samples of both estrogen receptor (ER-positive and ER-negative) cases.

Taken from a study published in the British Journal of Cancer, the graph above illustrates “proportions of familial risk of breast cancer explained by hereditary variants.” It is expected that anatomic pathologists will eventually incorporate these genetic variants into diagnostic test for breast and other cancers. (Graphic copyright: British Journal of Cancer.)

The results of their research were published in two separate studies: one in the scientific journal Nature and the other in Nature Genetics. The studies outlined 72 newly isolated genetic mutations that might help quantify the risk of a woman developing breast cancer in her lifetime.

Among the 72 mutations, seven genes were specifically associated with ER-negative cases. ER-negative breast cancer often fails to respond to hormone therapy. Thus, this discovery could be crucial to developing and administering precision medicine therapies tailored to specific patients’ physiologies and conditions. Treatments that improve patient outcomes and overall survival rates in ER-negative and ER-positive breast cancers.

Genetics Could Help Clinical Laboratories Wage War on All Cancers

According to data published by the Centers for Disease Control and Prevention (CDC), breast cancer is the most common form of cancer among women of all races. It’s the second-leading cause of all cancer deaths among most races and first among Hispanic women.

In the past, it was estimated that 5-10% of breast cancers were inherited through the passing of abnormal genes. However, Lisa Schlager, Vice President of community affairs and public policy for FORCE (Facing Our Risk of Cancer Empowered), told CNN, “This new information may mean that that estimate is low.” FORCE is a national nonprofit organization dedicated to fighting hereditary breast, ovarian, and related cancers.

Schlager calls upon health systems to “embrace the ability to use genetic information to tailor healthcare by providing affordable access to the needed screening and preventive interventions.” As precision therapy and genetic analysis continue to shape the way patients are treated, medical laboratories will play a significant role in providing the information powering these innovative approaches.

Furthermore, medical laboratories might leverage the same methods used by researchers to assess risk factors and identify genetic mutations and markers associated with other cancers. Douglas Easton, PhD, Director of the Centre for Cancer Genetic Epidemiology within the Department of Public Health and Primary Care at the University of Cambridge, and leader of the OncoArray Consortium investigation, explained to CNN that Illumina’s Infinium OncoArray is not limited to breast cancer, but is designed to work with other cancers, including:

·       colorectal;

·       ovarian; and,

·       prostate cancers.

Identifying Women at Increased Risk for Breast Cancer

Peter Kraft, PhD, Professor of Epidemiology at Harvard’s T.H. Chan School of Public Health, and a study author, told CNN, “Taken together, these risk variants may identify a small proportion of women who are at three-times increased risk of breast cancer.”

Kraft notes that samples were sourced from women of primarily European ancestry. Further study of other ethnic populations could lead to yet more mutations and indicators for cancers more common outside of the European region.

Research authors also highlight the importance of continued standard screening, such as mammograms. However, they suggest that genetic mutations, such as those found in the OncoArray study, might be used to highlight high-risk individuals and screen sooner, or conduct more in-depth genetic analyses, to catch potential cancer cases earlier and improve outcomes.

“Many women are offered mammogram screening when they are middle-aged,” Georgia Chenevix-Trench, PhD, co-author of the Nature Genetics study and researcher at the QIMR Berghofer Medical Research Institute in Australia, told LabRoots. “But if we know a woman has genetic markers that place her at higher risk of breast cancer, we can recommend more intensive screening at a younger age.”

Anatomic pathologists and clinical laboratories can use these new insights to offer increased options for oncologists and physicians on the front lines of the battle against cancer. While the list of genetic mutations related to cancer is far from complete, each added mutation holds the potential to power a new treatment, improve early detection rates, and improve survival rates of this global killer.

—Jon Stone

Related Information:

Major Study of Genetics of Breast Cancer Provides Clues to Mechanisms Behind the Disease

Breast Cancer Genetics Revealed: 72 New Mutations Discovered in Global Study

Identification of Ten Variants Associated with Risk of Estrogen-Receptor-Negative Breast Cancer

Association Analysis Identifies 65 New Breast Cancer Risk Loci

An Unprecedented Study Has Revealed 72 New Breast Cancer Gene Variants

Study Finds 72 New Genetic Mutations Linked to Breast Cancer

Major Study Identifies 72 New Genetic Risk Factors for Breast Cancer

Breast Cancer: 72 New Gene Mutations Uncovered

 

Clinical Laboratories Could Soon Diagnose 17 Diseases with a Single Breath Analyzer Test from Israel’s Institute of Technology

The Technion breathalyzer would give pathology groups and medical laboratories unprecedented ability to support physicians in diagnosing and treating cancers, chronic diseases, and other illnesses

Readers of Dark Daily know that several pathology research teams in America and the UK are developing breath analyzer tests that can detect everything from lung cancer to early-stage infections. Clinical laboratories will soon have a plethora of breath-related tests from which to choose. Now there’s a new kid on the block. A breathalyzer test that can detect up to 17 distinct cancerous, inflammatory, and neurological diseases!

Assuming the cost per test was at a competitive level to existing technologies, what would give this new diagnostic system appeal to physicians and patients alike is that it would be a non-invasive way to diagnose disease. Only a sample of the patient’s breath would be needed to perform the assays.

Researchers at the Israel Institute of Technology, or Technion, published the results of their study in ACS Nano, a monthly journal of the American Chemical Society devoted to “nanoscience and nanotechnology research at the interfaces of chemistry, biology, materials science, physics, and engineering.” (more…)

More Companies Pay for Employees to Have Genetic Tests in a Trend That Brings More Lab Test Volume to Medical Laboratories

As tests explore genetic markers related to excessive weight gain, and breast and ovarian cancer, companies as well as employees are seeing returns on investment and participation

In a development that is auspicious for medical laboratories, more genetic tests are making their way into more corporate health benefit plans. Big brands—from Aetna to Visa—are partnering with personalized health companies and clinical lab companies doing genetic testing as they support tests to help employees head-off health risks.

Employers’ sponsorship of genetic testing is a trend that could become more common, noted Fortune. But human resources and benefits experts say the offerings are still uncommon. There are also unresolved issues, such as when genetic test results are inconclusive or questionable.

For medical laboratories, the companies’ genetic testing benefits could prompt more test orders from healthcare consumers. Based on the results of their genetic tests, people might decide to make lifestyle changes, work toward prevention of chronic conditions, and take further tests to assess progress. (more…)

Sound Wave Acoustic Tweezers Locate and Isolate Circulating Tumor Cells in Liquid Biopsies; Could Lead to Less Invasive Cancer Diagnostics and Treatments

Pathologists will be interested to learn that this latest version of the acoustic tweezer device requires about five hours to identify the CTCs in a sample of blood

Medical laboratory leaders and pathologists are well aware that circulating tumor cells (CTCs) released by primary tumors into the bloodstream are fragile and easily damaged. Many studies have sought to find ways to separate CTCs from surrounding cells. Such a process could then be used as an early-detection biomarker to detect cancer from a sample of blood.

One team of researchers believe it has a way to accomplish this. These researchers are using sound waves to gently detect and isolate CTCs in blood samples. In turn, this could make it possible to diagnose cancer using “liquid biopsies” as opposed to invasive conventional biopsies.

Researchers from Carnegie Mellon University (CMU) in collaboration with researchers from the Massachusetts Institute of Technology (MIT) and Pennsylvania State University (Penn State) have developed a method for using acoustic tweezers and sound waves to separate blood-borne cancer cells from white blood cells. The research team believes this new device could one day replace invasive biopsies, according to a CMU article. (more…)

Health Insurers Balk at Paying for Multigene Panels While Clinical Pathology Laboratories and Physicians Pursue Evidence of Clinical Utility

News reports state that Anthem and Cigna have denied payment for some multigene panel tests, saying that the tests are unproven. Other insurers, such as UnitedHealthcare and Priority Health, pay for such tests but only for certain patients

A conflict is building between patients and health insurers over the reluctance among health plans to pay for new, expensive molecular diagnostic assays and genetic tests that clinical laboratory companies offer.

This conflict has caught the attention of the nation’s media. That is probably because it makes a great story, for example, to interview parents who can assert that their sick child suffered because their health insurance plan would not pay for a genetic test the parents believed would make a difference in their child’s clinical care. Of course, pathologists and medical laboratory professionals know that there are a significant number of expensive genetic tests being offered by various lab companies that lack extensive data to support their clinical efficacy. (more…)

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