Breaking News
September 20, 2018 - Celltrion and Emory University sign ‘Incubation’ agreement to develop new drug candidates for atherosclerosis
September 20, 2018 - TGen and PNOC take part in launch of NIH-supported Kids First Data Resource Portal
September 20, 2018 - Could Household Cleaners Make Your Kid Fat?
September 20, 2018 - Addiction nonprofit makes searching for services simple
September 20, 2018 - We are bombarded by thousands of diverse species and chemicals | News Center
September 20, 2018 - Experts to Present Prostate Cancer Advances at Patient Summit
September 20, 2018 - Alector announces initiation of Phase 1 trial of AL001 for treating frontotemporal dementia
September 20, 2018 - Pfizer’s 20vPnC vaccine receives Breakthrough Therapy designation from FDA
September 20, 2018 - Study could allow doctors to screen patients at risk from Aspergillus
September 20, 2018 - Emergex signs MoU with Brazil’s Fiocruz for development of viral vaccines
September 20, 2018 - The ‘real you’ is a myth – we constantly create false memories to achieve the identity we want
September 20, 2018 - Researchers describe cell mechanism that optimizes proteins production in stressful situations
September 20, 2018 - Cell Medica successfully doses first patient with CMD-501 targeting pediatric neuroblastoma
September 20, 2018 - Senators unveil legislation to protect patients against surprise medical bills
September 20, 2018 - Study provides insights into development of special-purpose cosmetic products
September 20, 2018 - Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1
September 20, 2018 - 91% of people around the world believe medical research will result in dementia cure
September 20, 2018 - DePuy Synthes introduces CONCORDE LIFT Expandable Interbody Device at EUROSPINE 2018
September 20, 2018 - Manx Telecom unveils MT clearSound that improves clarity of mobile phone calls
September 20, 2018 - Mediterranean-style diet appears to reduce stroke risk in women
September 20, 2018 - AbbVie Announces Patient-Reported Outcomes Data from Three Pivotal Phase 3 Studies of Risankizumab, Showing Significant Improvements in Health-Related Quality of Life for Patients with Psoriasis
September 20, 2018 - Characterization of pregnancy microbiome reveals variations in bacterial diversity
September 20, 2018 - New guidance for treatment of bone loss in hematologic stem cell transplant Recipients
September 20, 2018 - Experts to present research on prevention, management of dysphagia at international conference
September 20, 2018 - New study focuses on two-way gene switches controlling gene activity
September 20, 2018 - Zika virus could become a weapon against brain cancer
September 20, 2018 - Home-based video game exercises can reduce chronic low back pain in older people, study finds
September 20, 2018 - Investigators find that bile acids reduce cocaine reward
September 20, 2018 - Cannabinoid drugs reduce perceived unpleasantness of painful stimuli and increase tolerance
September 20, 2018 - Health care companies’ data could enable more accurate flu season forecasts
September 20, 2018 - Geroscience takes center stage in Journal of the American Medical Association
September 20, 2018 - Ambient Particulate Matter Linked to Emergency Asthma Care
September 20, 2018 - Patient satisfaction with plastic surgery—it’s the surgeon, not the practice
September 20, 2018 - Medicine is a team sport – and that’s exactly how it should be
September 20, 2018 - Logos Biosystems releases new electrophoretic tissue clearing system with twice the features in half the space
September 20, 2018 - Novel micro-platform reveals never-before-seen behaviors of cancer cells
September 20, 2018 - PAREXEL partners with Datavant to enhance clinical study design and generate real-world evidence
September 20, 2018 - Robert Koch Institute publishes new data on allergies, mental health problems, and accident injuries
September 20, 2018 - Study finds higher readmission rates in for-profit hospitals
September 20, 2018 - Encouraging youth to do strength-based exercises could help tackle child obesity
September 20, 2018 - Sleep apnea, congenital heart disease in hospitalized infants strongly associated with death
September 20, 2018 - Researchers find way to map mysterious content of non-coding RNA
September 20, 2018 - Air Pollutants Reach Placenta, Might Harm Fetus: Study
September 20, 2018 - Sleep apnea, congenital heart disease may be deadly mix for hospitalized infants
September 20, 2018 - My relative has cancer, should I worry? Encouraging cascade genetic testing
September 20, 2018 - Investigators determine specific treatable traits that can predict future asthma attacks
September 20, 2018 - More doctor visits can lower risk of suicide attempts in fibromyalgia patients
September 20, 2018 - Computer avatars play role in diagnosis of dementia
September 20, 2018 - Addition of CTLA4 targeted therapy to PD-1 targeted therapy may benefit patients with ovarian cancer
September 20, 2018 - ASPREE trial explores whether low dose aspirin can prolong good health in elderly people
September 20, 2018 - ATS publishes new guideline focused on weight loss strategies for sleep apnea patients
September 20, 2018 - The Current issue of “The view from here” is concerned with Drug Delivery
September 19, 2018 - Sleep apnea could favour tumor growth at young ages
September 19, 2018 - Stealth vaping fad hidden from parents, teachers
September 19, 2018 - Witnessing school violence linked to later risk of psycho-social and academic impairment
September 19, 2018 - Common household cleaners could make children overweight by changing gut microbiota
September 19, 2018 - Salk research in yeast leads to serendipitous finding about hypomyelinating leukodystrophy
September 19, 2018 - Study: Overweight or obese women may have increased risk of urinary incontinence
September 19, 2018 - Study shows how cellular waste disposal processes also promote inflammation
September 19, 2018 - New multidisciplinary microsurgery microscope, PROVIDO, introduced by Leica
September 19, 2018 - Phase 2b STORM Data Evaluating Selinexor in Patients with Penta-Refractory Multiple Myeloma Presented at the Society of Hematologic Oncology 2018 Annual Meeting
September 19, 2018 - Decisions recruiting gut feelings seen as reflection of true self, more assuredly held, study says
September 19, 2018 - How AI can improve end-of-life care
September 19, 2018 - UNIST and Ulsan initiate research collaboration to develop human organs-on-chips
September 19, 2018 - Study highlights key role of migrating shoals of fish in sustaining deep-ocean microorganisms
September 19, 2018 - Disagreeable individuals can benefit most from behaving more compassionately, finds study
September 19, 2018 - Janssen Submits New Drug Application to U.S. FDA Seeking Approval of Erdafitinib for the Treatment of Metastatic Urothelial Cancer
September 19, 2018 - Neuroplasticity is increased but dysregulated in the aging brain, study finds
September 19, 2018 - Suicide: A public health crisis
September 19, 2018 - Infants using popular anti-reflux medicines are not at increased risk of lung infections
September 19, 2018 - Stanford team will participate in NIH-funded study of tobacco policies | News Center
September 19, 2018 - Women with high levels of anti-Müllerian hormone more likely to develop breast cancer
September 19, 2018 - Researchers use larval zebrafish model to reveal role of locus coeruleus in anesthesia
September 19, 2018 - Effects of prematurity found to be more severe for the brains of males than females
September 19, 2018 - NIH funds CWRU to investigate new imaging approach for diagnosing peripheral arterial disease
September 19, 2018 - NUS researchers develop new device for quick and accurate screening of diseases
September 19, 2018 - Leading nutritionist explains about different types of iron in oral supplements
September 19, 2018 - New Crest Gum & Enamel Repair toothpaste may boost enamel repair and reverse gingivitis
September 19, 2018 - Analysis does not find any safety concerns of bivalent HPV vaccine
September 19, 2018 - Many Older Adults Transition to Long-Term Benzodiazepine Use
Accurately diagnosing genetic disease prevents cancer, saves lives

Accurately diagnosing genetic disease prevents cancer, saves lives

image_pdfDownload PDFimage_print
Credit: CC0 Public Domain

A single, upfront genomic test is more effective for detecting Lynch syndrome in colorectal cancer (CRC) patients than the traditional multiple, sequential testing approach, according to new clinical data reported by The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).

Researchers say offering this type of advanced genetic testing at the time of diagnosis could help guide and expedite treatment decisions for many patients who have CRC while simultaneously identifying the patients who are likely to have Lynch syndrome. This cancer-causing condition occurs when a person inherits a mutation in one of the DNA repair genes. Individuals with Lynch syndrome are much more likely to develop CRC, uterine, ovarian, stomach or other cancers than the general population.

For this study, researchers wanted to know if an upfront tumor-sequencing approach using a single test that screens for multiple mutations could replace the current multi-test screening approach commonly used to determine if a patient has Lynch syndrome.

To do this, researchers analyzed tumor samples from 419 CRC patients who participated in the Ohio Colorectal Cancer Prevention Initiative (OCCPI), a statewide research study to screen newly diagnosed CRC patients and their biological relatives for Lynch syndrome.

All OCCPI study participants had their tumor samples analyzed using the traditional multi-test genetic testing approach and the single, upfront genomic tumor-sequencing test approach in which a single tumor sample was analyzed for multiple mutations simultaneously.

Researchers compared results from the two screening methods and found that the upfront tumor-sequencing approach was more sensitive and more specific for detecting Lynch syndrome than the old, multiple-test model. Tumor sequencing resulted in a 10-percent improvement in Lynch syndrome detection rates while also providing important information about treatment options for the patients.

They report their findings in the March 29, 2018, issue of the medical journal JAMA Oncology.

“Testing methods of the past would just point to a suspicion of Lynch syndrome, but they could not confirm the diagnosis without multiple additional tests, which slows down the diagnostic process and adds costs,” says Heather Hampel, MS, CGC, corresponding author of the study and principal investigator of OCCPI. “This new approach points to the exact mutation patients were born with and does so through a single test. The mutation will need to be confirmed using a blood test but this requires a single mutation test which is less expensive than multi-gene panel testing. The previous method could sometimes require patients to get up to five individual tests before knowing if they had Lynch syndrome.”

The study also showed the test had some unanticipated benefits. For example, eight patients (1.7%) with DYPD mutations were identified. Patients with this mutation are prone to severe toxic reactions to 5-FU chemotherapy, the most common chemotherapy used to treat CRC. Another eight patients were found to have mutations in different hereditary cancer susceptibility genes which is important information for the patient and their family members.

“Knowing this type of information ahead of time might be useful for oncologists who can select another drug or use lower doses to avoid these bad reactions. In addition, this test can also identify other potential hereditary cancer syndromes by looking at other known cancer susceptibility genes at the same time,” said Hampel.

It was already known that upfront tumor testing could be used to accurately test for mutations in the three genes (BRAF, KRAS, and NRAS) that help determine treatment options for patients with advanced stage colorectal cancer; using this same test to determine Lynch syndrome status is a new discovery.

Researchers say this is a step toward integrating upfront tumor testing as part of the standard of care for all CRC patients instead of reserving this testing for advanced-stage patients for whom standard therapies are not working.

“While this new test is more expensive, it will eliminate many other tests for a subset of patients so that it may be more cost-effective overall. If it is not now, it will certainly be in the future as the costs of tumor sequencing continue to decline,” adds Hampel.

However, formal cost analysis studies will be necessary to determine if this is a cost-effective approach.


Explore further:
Many early-onset colon cancers are caused by genetic mutations passed through families

Journal reference:
JAMA Oncology

Provided by:
The Ohio State University Comprehensive Cancer Center

Tagged with:

About author

Related Articles