Oct 15, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Silicon Valley startup is using gene sequencing to identify in the bloodstream free-floating genetic material shed by tumors
There has been plenty of excitement about the new diagnostic technologies designed to identify circulating tumor cells in blood samples. Now, a well-funded Silicon Valley startup has developed a blood test that it says holds promise for detecting early-stage lung and other cancers.
Though experimental, the screening test—which uses gene sequencing to identify in the bloodstream cancer-signaling genetic material shed by tumors—would be a boon for clinical laboratories and health networks. It also could play a role in advancing precision medicine treatments and drug therapies.
GRAIL, a Menlo Park, Calif., life sciences company, presented its initial findings at the 2018 American Society of Clinical Oncology Annual Meeting in Chicago. Its lung cancer data is part of GRAIL’s ongoing Circulating Cell-Free Genome Atlas (CCGA) study, which aims to enroll 15,000 participants and investigate 20 different types of cancers.
“We’re excited that the initial results for the CCGA study show it is possible to detect early-state lung cancer from blood samples using genome sequencing,” said lead study author Geoffrey Oxnard, MD, Dana-Farber Cancer Institute and Associate Professor of Medicine at Harvard Medical School, in a Dana-Farber news release.
“There is an unmet need globally for early-detection tests for lung cancer that can be easily implemented by healthcare systems,” lead study author Geoffrey Oxnard, MD (above), said in the Dana-Farber news release. “These are promising early results and the next steps are to further optimize the assays and validate the results in a larger group of people.” (Photo copyright: Dana-Farber Cancer Institute.)
According to the news release, researchers in this initial analysis explored the ability of three different prototype sequencing assays, each with 98% specificity, to detect lung cancer in blood samples:
“The initial results showed that all three assays could detect lung cancer with a low rate of false positives (in which a test indicates a person has cancer when there is no cancer),” the Dana-Farber news release noted.
Identifying Disease Risk Before Symptoms Appear
Screening tests help identify individuals who are not displaying disease symptoms but may be at high risk for developing a disease. GRAIL’s goal is to develop a test with a specificity of 99% or higher. This means no more than one out of 100 people would receive a false-positive.
Otis Brawley, MD, Chief Medical and Scientific Officer at the American Cancer Society, points out that specificity is important when developing a population-based screening test that ultimately would be given to large portions of the general public based on age, medical history, or other factors.
“I am much more concerned about specificity than sensitivity [true positive rate], and [GRAIL] exhibited extremely high specificity,” Brawley told Forbes. “You don’t want a lot of false alarms.”
Some cancer experts have a wait-and-see reaction to GRAIL’s initial results, due in part to the small sample size included in the sub-study. Benjamin Davies, MD, Associate Professor of Urology at the University of Pittsburgh School of Medicine, and an expert on prostate cancer screening, told Forbes the early data was “compelling,” but the number of patients in the study was too small to generate excitement.
Oxnard, however, believes the initial results validate the promise of GRAIL’s blood screening test project.
“I was a skeptic two years ago,” Oxnard, a GRAIL consultant, told Forbes. “I think these data need to put a lot of the skepticism to rest. It can be done. This is proof you can find cancer in the blood, you can find advanced cancer, therefore this has legs. This has a real future. It’s going to be many steps down the line, but this deserves further investigation and should move forward.”
Next Steps
Researchers next plan to verify the initial results in an independent group of 1,000 CCGA participants as part of the same sub-study. They then will attempt to optimize the assays before validating them in a larger data set from CCGA, the Dana-Farber news release explained.
Illumina, a sequencing-technology developer, formed GRAIL in 2016, with participating investments from Bill Gates, Bezos Expeditions and Sutter Hill Ventures. Since then, GRAIL has attracted other high-flying investors, including Amazon, Merck, Johnson and Johnson, and Bristol-Myers Squibb.
Forbes notes that as of 2018 GRAIL has raised $1.6 billion in venture capital and has a $3.2 billion valuation, according to private market data firm Pitchbook. Last year, GRAIL merged with Hong Kong-based Cirina Ltd., a privately held company also focused on the early detection of cancer.
While GRAIL’s projects hold promise, anatomic pathologists and clinical laboratories may be wise to temper their enthusiasm until more research is done.
“We all would like to dream that someday you’d be able to diagnose cancer with a blood test,” Eric Topol, MD, Executive Vice President and Professor of Molecular Medicine at Scripps Research, told Forbes. Topol says he’s “encouraged” by GRAIL’s methodical approach, but warns: “We’re at the earliest stage of that.”
—Andrea Downing Peck
Related Information:
Biotech Firm GRAIL Takes the First Steps in Its Quest for a Blood Test for Cancer
Blood Test Shows Potential for Early Detection of Lung Cancer
Detection via Blood-Based Screening
Illumina Launches GRAIL, Focused on Blood-Based Cancer Screening
GRAIL and Cirina Combine to Create Global Company Focused on Early Detection of Cancer
Oct 8, 2018 | Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Both health systems will use their EHRs to track genetic testing data and plan to bring genetic data to primary care physicians
Clinical laboratories and pathology groups face a big challenge in how to get appropriate genetic and molecular data into electronic health record (EHR) systems in ways that are helpful for physicians. Precision medicine faces many barriers and this is one of the biggest. Aside from the sheer enormity of the data, there’s the question of making it useful and accessible for patient care. Thus, when two major healthcare systems resolve to accomplish this with their EHRs, laboratory managers and pathologists should take notice.
NorthShore University HealthSystem in Illinois and Geisinger Health System in Pennsylvania and New Jersey are working to make genetic testing part of primary care. And both reached similar conclusions regarding the best way for primary care physicians to make use of the information.
One area of common interest is pharmacogenomics.
At NorthShore, two genetic testing programs—MedClueRx and the Genetic and Wellness Assessment—provide doctors with more information about how their patients metabolize certain drugs and whether or not their medical and family histories suggest they need further, more specific genetic testing.
“We’re not trying to make all of our primary care physicians into genomic experts. That is a difficult strategy that really isn’t scalable. But we’re giving them enough tools to help them feel comfortable,” Peter Hulick, MD, Director of the Center for Personalized Medicine at NorthShore, told Healthcare IT News.
Conversely, Geisinger has made genomic testing an automated part of primary care. When patients visit their primary care physicians, they are asked to sign a release and undergo whole genome sequencing. An article in For the Record describes Geisinger’s program:
“The American College of Medical Genetics and Genomics classifies 59 genes as clinically actionable, with an additional 21 others recommended by Geisinger. If a pathogenic or likely pathogenic variant is found in one of those 80 genes, the patient and the primary care provider are notified.”
William Andrew Faucett (left) is Director of Policy and Education, Office of the Chief Scientific Officer at Geisinger Health; and Peter Hulick, MD (right), is Director of the Center for Personalized Medicine at NorthShore University HealthSystem. Both are leading programs at their respective healthcare networks to improve precision medicine and primary care by including genetic testing data and accessibility to it in their patients’ EHRs. (Photo copyrights: Geisinger/NorthShore University HealthSystem.)
The EHR as the Way to Access Genetic Test Results
Both NorthShore and Geisinger selected their EHRs for making important genetic information accessible to primary care physicians, as well as an avenue for tracking that information over time.
Hulick told Healthcare IT News that NorthShore decided to make small changes to their existing Epic EHR that would enable seemingly simple but actually complex actions to take place. For example, tracking the results of a genetic test within the EHR. According to Hulick, making the genetic test results trackable creates a “variant repository,” also known as a Clinical Data Repository.
“Once you have that, you can start to link it to other information that’s known about the patient: family history status, etc.,” he explained. “And you can start to build an infrastructure around it and use some of the tools for clinical decision support that are used in other areas: drug/drug interactions, reminders for flu vaccinations, and you can start to build on those decision support tools but apply them to genomics.”
Like NorthShore, Geisinger is also using its EHR to make genetic testing information available to primary care physician when a problem variant is identified. They use EHR products from both Epic and Cerner and are working with both companies to streamline and simplify the processes related to genetic testing. When a potentially problematic variant is found, it is listed in the EHR’s problem list, similar to other health issues.
Geisinger has developed a reporting system called GenomeCOMPASS, which notifies patients of their results and provides related information. It also enables patients to connect with a geneticist. GenomeCOMPASS has a physician-facing side where primary care doctors receive the results and have access to more information.
Andrew Faucett, Senior Investigator (Professor) and Director of Policy and Education, Office of the Chief Scientific Officer at Geisinger, compares the interpretation of genetic testing to any other kind of medical testing. “If a patient gets an MRI, the primary care physicians doesn’t interpret it—the radiologist does,” adding, “Doctors want to help patients follow the recommendations of the experts,” he told For the Record.
The Unknown Factor
Even though researchers regularly make new discoveries in genomics, physicians practicing today have had little, if any, training on how to incorporate genetics into their patients’ care. Combine that lack of knowledge and training with the current lack of EHR interoperability and the challenges in using genetic testing for precision medicine multiply to a staggering degree.
One thing that is certain: the scientific community will continue to gather knowledge that can be applied to improving the health of patients. Medical pathology laboratories will play a critical role in both testing and helping ensure results are useful and accessible, now and in the future.
—Dava Stewart
Related Information:
Introducing “Genomics and Precision Health”
How NorthShore Tweaked Its Epic EHR to Put Precision Medicine into Routine Clinical Workflows
Precise, Purposeful Health Care
Next-Generation Laboratory Information Management Systems Will Deliver Medical Laboratory Test Results and Patient Data to Point of Care, Improving Outcomes, Efficiency, and Revenue
Jun 13, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Access to vast banks of genomic data is powering a new wave of assessments and predictions that could offer a glimpse at how genetic variation might impact everything from Alzheimer’s Disease risk to IQ scores
Anatomic pathology groups and clinical laboratories have become accustomed to performing genetic tests for diagnosing specific chronic diseases in humans. Thanks to significantly lower costs over just a few years ago, whole-genome sequencing and genetic DNA testing are on the path to becoming almost commonplace in America. BRCA 1 and BRCA 2 breast cancer gene screenings are examples of specific genetic testing for specific diseases.
However, a much broader type of testing—called polygenic scoring—has been used to identify certain hereditary traits in animals and plants for years. Also known as a genetic-risk score or a genome-wide score, polygenic scoring is based on thousands of genes, rather than just one.
Now, researchers in Cambridge, Mass., are looking into whether it can be used in humans to predict a person’s predisposition to a range of chronic diseases. This is yet another example of how relatively inexpensive genetic tests are producing data that can be used to identify and predict how individuals get different diseases.
Assessing Heart Disease Risk through Genome-Wide Analysis
Sekar Kathiresan, MD, Co-Director of the Medical and Population Genetics program at Broad Institute of MIT/Harvard and Director of the Center for Genomics Medicine at Massachusetts General Hospital (Mass General); and Amit Khera, MD, Cardiology Fellow at Mass General, told MIT Technology Review “the new scores can now identify as much risk for disease as the rare genetic flaws that have preoccupied physicians until now.”
“Where I see this going is that, at a young age, you’ll basically get a report card,” Khera noted. “And it will say for these 10 diseases, here’s your score. You are in the 90th percentile for heart disease, 50th for breast cancer, and the lowest 10% for diabetes.”
However, as the MIT Technology Review article points out, predictive genetic testing, such as that under development by Khera and Kathiresan, can be performed at any age.
“If you line up a bunch of 18-year-olds, none of them have high cholesterol, none of them have diabetes. It’s a zero in all the columns, and you can’t stratify them by who is most at risk,” Khera noted. “But with a $100 test we can get stratification [at the age of 18] at least as good as when someone is 50, and for a lot of diseases.”
Sekar Kathiresan, MD (left), Co-Director of the Medical and Population Genetics program at Broad Institute at MIT/Harvard and Director of the Center for Genomics Medicine at Massachusetts General Hospital; and Amit Khera, MD (right), Cardiology Fellow at Mass General, are researching ways polygenic scores can be used to predict the chance a patient will be prone to develop specific chronic diseases. Anatomic pathology biomarkers and new clinical laboratory performed genetic tests will likely follow if their research is successful. (Photo copyrights: Twitter.)
Polygenic Scores Show Promise for Cancer Risk Assessment
Khera and Kathiresan are not alone in exploring the potential of polygenic scores. Researchers at the University of Michigan’s School of Public Health looked at the association between polygenic scores and more than 28,000 genotyped patients in predicting squamous cell carcinoma.
“Looking at the data, it was surprising to me how logical the secondary diagnosis associations with the risk score were,” Bhramar Mukherjee, PhD, John D. Kalbfleisch Collegiate Professor of Biostatistics, and Professor of Epidemiology at U-M’s School of Public Health, stated in a press release following the publication of the U-M study, “Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.”
“It was also striking how results from population-based studies were reproduced using data from electronic health records, a database not ideally designed for specific research questions and [which] is certainly not a population-based sample,” she continued.
Additionally, researchers at the University of California San Diego School of Medicine (UCSD) recently published findings in Molecular Psychiatry on their use of polygenic scores to assess the risk of mild cognitive impairment and Alzheimer’s disease.
The UCSD study highlights one of the unique benefits of polygenic scores. A person’s DNA is established in utero. However, predicting predisposition to specific chronic diseases prior to the onset of symptoms has been a major challenge to developing diagnostics and treatments. Should polygenic risk scores prove accurate, they could provide physicians with a list of their patients’ health risks well in advance, providing greater opportunity for early intervention.
Future Applications of Polygenic Risk Scores
In the January issue of the British Medical Journal (BMJ), researchers from UCSD outlined their development of a polygenic assessment tool to predict the age-of-onset of aggressive prostate cancer. As Dark Daily recently reported, for the first time in the UK, prostate cancer has surpassed breast cancer in numbers of deaths annually and nearly 40% of prostate cancer diagnoses occur in stages three and four. (See, “UK Study Finds Late Diagnosis of Prostate Cancer a Worrisome Trend for UK’s National Health Service,” May 23, 2018.)
An alternative to PSA-based testing, and the ability to differentiate aggressive and non-aggressive prostate cancer types, could improve outcomes and provide healthcare systems with better treatment options to reverse these trends.
While the value of polygenic scores should increase as algorithms and results are honed and verified, they also will most likely add to concerns raised about the impact genetic test results are having on patients, physicians, and genetic counselors.
And, as the genetic testing technology of personalized medicine matures, clinical laboratories will increasingly be required to protect and distribute much of the protected health information (PHI) they generate.
Nevertheless, when the data produced is analyzed and combined with other information—such as anatomic pathology testing results, personal/family health histories, and population health data—polygenic scores could isolate new biomarkers for research and offer big-picture insights into the causes of and potential treatments for a broad spectrum of chronic diseases.
—Jon Stone
Related Information:
Forecasts of Genetic Fate Just Got a Lot More Accurate
Polygenic Scores to Classify Cancer Risk
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-Wide Study: Results from the Michigan Genomics Initiative
Polygenic Risk Score May Identify Alzheimer’s Risk in Younger Populations
Use of an Alzheimer’s Disease Polygenic Risk Score to Identify Mild Cognitive Impairment in Adults in Their 50s
New Polygenic Hazard Score Predicts When Men Develop Prostate Cancer
Polygenic Hazard Score to Guide Screening for Aggressive Prostate Cancer: Development and Validation in Large Scale Cohorts
UK Study Finds Late Diagnosis of Prostate Cancer a Worrisome Trend for UK’s National Health Service
Jun 6, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
In what could be a major boon to clinical laboratories and healthcare providers, researchers found that fears of rampant testing and ballooning spending due to results of whole-genome sequencing may be less of a concern than opponents claim
Clinical laboratory testing and personalized medicine (AKA, precision medicine) continue to reshape how the healthcare industry approaches treating disease. And, whole-genome sequencing (WGS) has shown promise in helping in vitro diagnostic (IVD) companies develop specific treatments for specific patients’ needs based on their existing conditions and physiology.
At first blush, this would seem to be a good thing. However, there has been controversy over cost and unintended consequences after patients who received their test results experienced negative encounters with physicians and genetic counselors. The impact on their lives and on their caregivers have not always been positive. (See Dark Daily, “Consumers Buying Genealogy Gene Sequencing Tests in Record Numbers; Some Experts Concerned Data Could Be Misinterpreted,” May 14, 2018.)
Nevertheless, WGS development and the ensuing controversy continues. This has motivated researchers at Brigham and Women’s Hospital (BWH) in Boston to engage in a study that compares the upfront costs of WGS to the downstream costs of healthcare, in an attempt to determine if and how whole-genome sequencing does actually impact the cost of care.
Are Doctors Acting Responsibly?
The MedSeq Project study, published in Genetics in Medicine, a journal of the American College of Medical Genetics and Genomics, involved 200 people—100 of them healthy, the other 100 diagnosed with cardiomyopathy. Roughly half of each group underwent whole-genome sequencing, while the other half used family history to guide treatments and procedures. The project then collected data on downstream care costs for the next six months for each group to compare how whole-genome sequencing might impact the final totals.
“Whole genome sequencing is coming of age, but there’s fear that with these advancements will come rocketing healthcare costs,” lead author Kurt Christensen, PhD, Instructor of Medicine in the Division of Genetics at BWH, stated in a press release.
“Our pilot study is the first to provide insights into the cost of integrating whole-genome sequencing into the everyday practice of medicine,” noted Kurt Christensen, PhD, lead author of the Brigham and Women’s Hospital study. “Our data [provides] reassurance that physicians seem to be responding responsibly and that we’re not seeing evidence of dramatically increased downstream spending.” (Photo copyright: ResearchGate.)
Within the healthy volunteer group, patients who based treatment decisions solely on their family medical history averaged $2,989 in medical costs over the next six months. Those who received WGS incurred $3,670 in costs.
Services also remained relatively consistent between both groups. The WGS group averaging 5.5 outpatient lab tests and 8.4 doctor visits across the period, while the family history group averaged 4.4 outpatient lab tests and 6.9 doctor visits.
Within the cardiology patient group, however, the dynamic flipped. WGS recipients averaged $8,109 in spending, while the family history group averaged $9,670. Study authors attribute this to the possibility of treatments while being hospitalized for concerns unrelated to the study.
When removing hospitalizations from the data set, the WGS group averaged $5,392, while the family history group averaged $4,962—a result similar to that of the healthy group.
Utilization of services was also similar. The WGS group averaged 7.8 doctor visits, while the family history group averaged 7.2 visits. However, the outpatient lab testing spread was wider than any other group in the study. WGS patients averaged 9.5 tests compared to the 6.5 of the family history group.
Unanswered Questions
In their report, the study’s authors acknowledged a range of questions still unanswered by their initial research.
First, the project took place at a facility in which physicians were educated in genetics, had contacts familiar with genetics, and had the support of a genome resource center. The level of experience with genetics may also have prevented additional spending by tempering responses to results.
Although the whole-genome sequencing that took place during the project uncovered genetic variants known to or likely to cause disease within the healthy population, this did not trigger the wave of testing or panic many opponents of genetic sequencing predicted.
Authors also acknowledge that a longer, larger study would offer more conclusive results. Researchers are planning for a longer 5-year study to verify their initial findings. However, study co-author Robert Green, MD, Director of the Genomes2People Research Program at BWH told STAT, “… downstream medical costs of sequencing may be far more modest than the common narrative suggests.”
Further Research Needed
The BWH researchers acknowledged that monetary cost is only one facet of the impact of genetic sequencing results. “Patient time costs were not assessed,” the study authors pointed out. “Nor were the effects of disclosure on participants’ family members, precluding a complete analysis from a societal perspective.”
Lastly, they noted that while the sample size sufficed to verify their results, diversity was lacking. In particular, they mentioned that the participant pool was “more educated and less ethnically diverse than the general population.”
The cost of genetic sequencing and similar technologies continue to drop as automation and innovation make the process more accessible to clinicians and healthcare providers. This could further impact longer studies of the overall cost of sequencing and other genetics-based tools.
For medical laboratories, these results offer proof to both payers and physicians on the value of services in relation to the overall cost of care—a critical concern, as margins continue to shrink and regulations focus on efficiency across a broad spectrum of healthcare-related service industries.
—Jon Stone
Related Information:
Genetic Sequencing: Low Rate of Downstream Costs Demonstrate It’s Worth the Investment
Getting Your Genome Sequenced Might Not Make You Spend More on Health Care
Sequencing Patients’ Genomes Might Not Break the Health Care Bank, Study Finds
Studies Show How Clinical Whole-Exome Sequencing May Forever Change the Future Practice of Medicine while Giving Pathologists a New Opportunity to Deliver Value
Consumers Buying Genealogy Gene Sequencing Tests in Record Numbers; Some Experts Concerned Data Could Be Misinterpreted
Jan 12, 2018 | Laboratory Pathology
Clinical labs and pathology groups know how advances in targeted therapies and genomics far outpace providers’ and patients’ ability to know how best to use and pay for them.
One fascinating development on the road to precision medicine is that many new cancer drugs now in clinical trials will require a companion genetic test to identify patients with tumors that will respond to a specific therapeutic drug.
This implies more genetic testing of tumors, a prospect that challenges both the Medicare program and private health insurers because they already struggle to cope with the flood of new genetic tests and molecular diagnostic assays. However, even as this genetic testing wave swamps payers, some pharmaceutical companies have cancer drugs for rare types of cancers and these companies would like to see more genetic testing of tumors.
Pathologists and clinical laboratory managers will find this to be precisely the dilemma facing specialty pharma company Loxo Oncology (NASDAQ:LOXO), a biopharmaceutical company located in San Francisco and Stamford, Conn.
Loxo is developing larotrectinib (LOXO-101), a “selective TRK inhibitor.” According to a Loxo press release, Larotrectinib is “a potent, oral, and selective investigational new drug in clinical development for the treatment of patients with cancers that harbor abnormalities involving the tropomyosin receptor kinases (TRK receptors).” In short, the drug is designed to “directly target TRK, and nothing else, turning off the signaling pathway that allows TRK fusion cancers to grow.”
How to Find Patients for This Cancer Drug
While a powerful, new, targeted cancer drug will be a boon to cancer therapy, it is only intended for a relatively small number of patients. Loxo estimates that between 1,500 and 5,000 cases of cancer are caused by TRK mutations in the United States each year. Conversely, according to the National Cancer Institute, the total number of new cancer diagnoses in the US in 2016 was 1,685,210.
An article in MIT Technology Review on larotrectinib notes, “To find patients, Loxo will need to convince more doctors to order comprehensive tests that screen multiple genes at once, including TRK.” And that is where things get complicated.
“These advanced genetic tests, which can cost $5,000 or more, are offered by companies like Foundation Medicine, Caris Life Sciences, and Cancer Genetics. The problem is, insurers still consider the tests ‘experimental’ and don’t routinely cover them, meaning patients are often stuck picking up the bill,” notes MIT Technology Review.
Data for the graph above comes from the National Human Genome Research Institute. The graph illustrates the steep decline in cost for whole genome sequencing over the past 17 years. As the cost of genetic testing drops, development of targeted-drug cancer therapies increases. Clinical laboratories and anatomic pathology groups can expect to be performing more such tests in the future. (Graphic copyright: National Human Genome Research Institute/Simple English Wiki.)
To further confuse the market, the National Cancer Institute states that “Insurance coverage of tumor DNA sequencing depends on your insurance provider and the type of cancer you have. Insurance providers typically cover a DNA sequencing test if there is sufficient evidence to support that the test is necessary to guide patient treatment. Tests without sufficient evidence to support their utility may be considered experimental and are likely not covered by insurance.”
Many reliable sources agree. For example, the US National Library of Medicine Genetics Home Reference states, “In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a person’s doctor.”
That, however, leads to a different conundrum for drug makers such as Loxo: the majority of doctors are not keeping up with the rapid-fire pace of discovery in the realm of genetics and targeted therapies. Some genes like BRCA1 and BRCA2 are familiar enough to doctors that they know how and why they are important. However, most other genes are less known, and critically, less understood by doctors who must also focus on all the other myriad aspects of patient care.
In an article on the Color Genomics $249 Hereditary Cancer Test, which tests for mutations in 30 genes, Timothy Hamill, MD, Professor Emeritus, University of California San Francisco (UCSF) Department of Laboratory Medicine, and former overall director of UCSF’s clinical laboratories, told Wired, “If you talk to docs, they say ‘BRCA, that’s the only thing I’m interested in because I don’t know what to do with the other information.’ Doctors don’t know what to do with it. Patients don’t know what to do with it.”
More Testing Equals More Knowledge
Further complicating the issue, there is an enormous lack of information on how multipanel screenings will affect individuals, public health, and the cost of healthcare in general. Several studies are underway, but they are so new it could be years before any real results become available.
Five years ago, it cost about $20,000 to sequence the whole human genome. Now the average price is $1,500, though there are more and less expensive types of genetic tests. As the cost continues to decline, however, more people will undergo the testing and scientists will learn more about how to identify the best therapy to treat cancers caused by genetic mutations.
—Dava Stewart
Related Information:
Loxo Oncology Announces Positive Top-Line Results from Independent Review Committee Assessment of Larotrectinib Dataset
National Cancer Institute Statistics
Promising New Cancer Drugs Won’t Go Far Unless Everyone Gets Genetic Testing
Tumor DNA Sequencing in Cancer Treatment
Will Health Insurance Cover the Costs of Genetic Testing?
A Single $249 Test Analyzes 30 Cancer Genes. But Do You Need It?
Personal Genome Test Will Sell at New Low Price of $250
