News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

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News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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Genomics is quickly becoming the foundational disruptor technology on which many new and powerful clinical laboratory tests and procedures will be based

Genomics testing has become accessible, affordable, and in some instances, life-saving. Clinical laboratories and pathology groups are handling more genomic data each year, and the trend does not appear to be slowing down. Here are current trends in genomic research that soon could be bringing new capabilities to medical laboratories nationwide.

Improved Data Sharing

Sometimes genetic tests don’t translate into better outcomes for patients because medical labs are limited in how they can share genomic data. Thus, experts from various disciplines are seeking ways to integrate genomic data sharing into the hospital and laboratory clinical workflow in a form that’s easily accessible to doctors.

In an October 2016 Healthcare Informatics article, Jeremy Warner, MD, Assistant Professor of Medicine and Biomedical Informatics at Vanderbilt University in Nashville, Tenn., is quoted as describing an average genomic report as being “30 pages long and dense” during his presentation at the October 2016 HL7 Genomics Conference on The Future of Cancer Genomics, Interoperability, and Precision Patient Care. He went on to say, “I can’t imagine reading a 30-page PDF in front of a patient in the office.”

According to a Healthcare Informatics article, Jeremy Warner, MD (above), said during his presentation at the October 2016 HL7 Genomics Conference, “Integrating genomics into clinical workflow is a step into unknown territory. Health systems have to make sure the report is not interruptive of the patient-doctor relationship.” (Photo copyright: Vanderbilt University.)

Besides being unwieldy during an office visit, that much data is also difficult to transfer directly into a patient’s electronic health record (EHR) in a format that is immediately useful to physicians. Once that’s possible, doctors could devise treatment plans that target specific diseases in specific patients.

Genomics and Drugs

Pharmacogenomics is an area of research that promises to predict how patients will likely respond to specific treatments based on their genomes. Some drugs have potentially life-threatening side-effects. And research has already shown that many people do not respond to certain treatments, some of which are very expensive. Thus, the latest advances in pharmacogenomics could provide clinical laboratories with another powerful tool for identifying treatments most likely to work.

In an article for US News, Mark Dunnenberger, PharmD, Program Director of pharmacogenomics at NorthShore University Health System, wrote, “Especially when it comes to pain medication and psychiatric medications, pharmacogenomics testing can minimize the trial and error of prescribing medications, plus help a physician narrow down treatment choices.”

CRISPR Gene Editing

Gene therapy, which sometimes involves gene editing, is becoming one of the biggest advances in the genomic testing industry. And the clustered, regularly interspaced, short palindromic repeat, or CRISPR, is emerging as the leading gene-editing tool.

According to an article on the website of the Broad Institute of MIT and Harvard, the system can be “programmed to target specific stretches of genetic code and to edit DNA at precise locations.”

In a knowledge-sharing post on Quora that explains CRISPR, Daniel Bryan Goodman, PhD, of Harvard and MIT, wrote that CRISPR “will be useful for everything from agricultural biotech to biofuels and biomaterials production to gene therapy for human disease.”

Of course, not everyone agrees with the data. In a news release, Renee Wegrzyn, PhD, Program Manager of the Biological Technologies Office (BTO) at DARPA, noted that “gene editing holds incredible promise to advance the biological sciences, but right now responsible actors are constrained by the number of unknowns and a lack of controls.” DARPA, which stands for Defense Advanced Research Projects Agency, is working to support responsible research in the field.

Less Invasive Genomic Tests for Chronic Disease

A fast-growing trend in genomic research is less- or non-invasive screening tests for chronic disease, such as cancer, that don’t dissuade patients from getting tested. A stool-based colorectal cancer screening test that was approved by the US Food and Drug Administration (FDA) in 2014 is one such test. It is far less invasive than a colonoscopy, and since colorectal cancer is the third most common type of cancer, a less-invasive test that encourages more patients to be tested is a good thing.

Another less-invasive test involves liquid biopsies, such as blood, to screen for cancer. Certain types of cancers produce tumors that break off and circulate in the blood stream. The DNA present in those bits and pieces reveal much about the current state of the cancer. However, there continues to be plenty of debate about whether this technology is robust enough for regular use in clinical care.

In a news release announcing CancerIntercept, Pathway’s first liquid biopsy, Glenn Braunstein, MD, Chief Medical Officer at Pathway Genomics, stated that “rising levels of tumor DNA may indicate progression of tumor growth.” Regular clinical laboratory monitoring of at-risk patients through liquid biopsies could enable physicians to order changes in treatment quickly and potentially save lives.

Direct-to-Consumer Genetic Tests

Developers of genetic tests for genealogy research are considering how they can bring these tests into the lucrative medical laboratory testing market. An inexpensive home genetic profile test that identifies predispositions to certain cancers, and which could be transmitted to a family physician, would be a boon to pathology and healthcare.

However, professional organizations such as the American College of Medical Genetics (ACMG) and other industry groups recommend that a healthcare professional be involved in any direct-to-consumer genetic testing, and the interpreting of the test results. According to an ACMG statement, “Due to the complexities of genetic testing and counseling, the self-ordering of genetic tests by patients over the telephone or the Internet, and their use of genetic ‘home testing’ kits, is potentially harmful.”

It’s clear where these trends are headed. Clinical laboratories and pathology groups will be handling increasing amounts of patient genetic data, some of which will come from tests conducted in the lab, and others that will arrive from outside sources. It would be wise to proactively develop procedures for integrating genomic data into the lab’s workflow and transmitting it into patients’ EHRs. This will make your lab an asset for local hospitals and healthcare organizations conducting advanced genomic testing.

—Dava Stewart

Related Information:

Health Systems Focus on Data Integration, Decision Support, Clinical Workflow

7 Things to Know about Pharmacogenomics

Insert, Remove or Replace: A Highly-Advanced Genome Editing System Using CRISPR/Cas9

Questions and Answers About CRISPR

What Is CRISPR/Cas9? What Can It Do? 

Setting a Safe Course for Gene Editing Research

First Noninvasive DNA Screening Test for Colorectal Cancer Gets FDA Approval

Colorectal Cancer Screening Tests

Pathway Genomics Launches First Liquid Biopsy Test to Detect Cancer-Associated Mutations in High-Risk Patients

What Is Direct-to-Consumer Genetic Testing?

ACMG Statement on Direct-To-Consumer Genetic Testing 

Broad Institute Teams Up with Intel to Integrate Genomic Data from Diverse Sources and Enhance Genomic Data Analytic Capabilities

Genetic Tests and Precision Medicine Start to Win Acceptance by Some Payers; Pathologists and Clinical Laboratories Have Opportunity as Advisors

Whole Human Gene Sequencing Technology Is Poised to Be the Next Big Thing for Clinical Pathology Laboratories

World’s Two Largest Whole Genome Sequencing Programs Give Pathologists and Clinical Laboratory Managers an Intriguing Look at New Diagnostic Opportunities

Free White Paper: A Lab Leader’s Guide To Pharmacogenomic Testing (PGx)