Breaking News
October 20, 2018 - New approach to understanding cancers will accelerate development of better treatments
October 20, 2018 - LJI and UC San Diego awarded $ 4.5 million as part of NCI’s Cancer Moonshot initiative
October 20, 2018 - School-based HPV vaccination did not increase risky sexual behaviors among adolescent girls
October 20, 2018 - Eye discovery to pave way for more successful corneal transplants
October 20, 2018 - New analysis examines the importance of location in the opioid crisis
October 20, 2018 - Green filters increase reading speed for children with dyslexia
October 19, 2018 - Bariatric Sx Cuts Macrovascular Complications in Obesity, T2DM
October 19, 2018 - Better assessments for early age-related macular degeneration
October 19, 2018 - Visible and valued: Stanford Medicine’s first-ever LGBTQ+ Forum | News Center
October 19, 2018 - Understanding of metal-free enzymes used by bacteria could lead to new effective antibiotics
October 19, 2018 - Beckman Coulter Life Sciences announces new research-focused website
October 19, 2018 - Study finds link between refined soluble fibers, gut microbiota and liver cancer
October 19, 2018 - Social media reduces risk of depression among seniors with pain
October 19, 2018 - Newly developed synthetic DNA molecule may one day be used as ‘vaccine’ for prostate cancer
October 19, 2018 - Preoperative weight loss may not provide health benefits after surgery
October 19, 2018 - U.S. Birth Rates Continue to Drop as Age of New Moms Rises
October 19, 2018 - New technology can keep an eye on babies’ movements in the womb
October 19, 2018 - Juul e-cigarettes pose addiction risk for young users | News Center
October 19, 2018 - Gene sequencing reveals crucial molecular aspects of Trypanosoma brucei
October 19, 2018 - New DNA vaccine strategy protects mice against lethal challenge by multiple H3N2 viruses
October 19, 2018 - Study shows close link between cytokine interleukin-1ß and obesity-promoted colon cancer
October 19, 2018 - Muscle mass plays a critical role in health, shows research
October 19, 2018 - Study finds undiagnosed prediabetes in many infertile men
October 19, 2018 - The Current issue of “The view from here” is concerned with Nanotherapeutic strategies
October 19, 2018 - Delay in replacing the Pap smear with HPV screening is costing lives
October 19, 2018 - Physicians battle pediatric diseases of ear, nose, throat in Zimbabwe | News Center
October 19, 2018 - Researchers investigate why some cancers affect only young women
October 19, 2018 - Drugmakers funnel millions to lawmakers; a few dozen get $100,000-plus
October 19, 2018 - Unselfish people tend to have more children and receive higher salaries
October 19, 2018 - New findings reveal potential cellular players in tumor microenvironment
October 19, 2018 - Human brain cell transplant offers insights into neurological conditions
October 19, 2018 - Parental education associated with increased family health care spending
October 19, 2018 - New statistical method estimates long- and short-term risk of recurrence of breast cancer in US women
October 19, 2018 - Father’s exposure to nicotine may cause cognitive deficits in descendants
October 19, 2018 - Could we prevent Alzheimer’s disease by treating herpes?
October 19, 2018 - Nurse-led care can be more successful in managing gout
October 19, 2018 - Trump administration, pharma exchange verbal volleys on drug-price transparency
October 19, 2018 - Duke researchers find way to detect blood doping in athletes
October 19, 2018 - Many primary care doctors are still prescribing sedative drugs for older adults
October 19, 2018 - Finger length can predict sexuality in women say researchers
October 19, 2018 - Study finds differences in side-effects experienced by male and female OG cancer patients
October 19, 2018 - Dysfunction of single gene leads to miscarriages
October 19, 2018 - Few Seniors Who Self-Harm Referred for Mental Health Care
October 19, 2018 - Don’t sweat the sweet stuff
October 19, 2018 - URMC researchers discover new approach to deliver therapeutics to the brain
October 19, 2018 - Speech Pathology Australia raises awareness about Developmental Language Disorder
October 19, 2018 - Middlemen suppliers can increase drug prices and hospital bills, say Johns Hopkins researchers
October 19, 2018 - Survey finds high prevalence of HTLV-1 infection among teens and adults in Gabon
October 19, 2018 - Bliss funds research to find whether parental touch can help alleviate pain in premature infants
October 19, 2018 - Human neurons employ highly compartmentalized signaling, study shows
October 19, 2018 - Ultromics expands multiple clinical trials for coronary heart disease to the U.S.
October 19, 2018 - $11 million NIH grant for Clemson University helps launch new center for musculoskeletal research
October 19, 2018 - A new approach identified to control Zika virus, dengue fever
October 19, 2018 - Head Blows Without Concussion May Not Damage Brain, Study Claims
October 19, 2018 - US opioid use not declined, despite focus on abuse and awareness of risk
October 19, 2018 - Next-generation RNA sequencing technology sheds new light on human mitochondrial diseases
October 19, 2018 - UT Southwestern biochemist receives 2019 Breakthrough Prize in Life Sciences for innate immunity discovery
October 19, 2018 - The immune system also plays a key role in day-to-day function of healthy organs
October 19, 2018 - New tool may reveal how the brain structure impacts brain activity, human behavior
October 19, 2018 - Trump Administration announces ‘Winning on Reducing Food Waste’ initiative
October 19, 2018 - For-profit nursing home residents more likely to experience health issues caused by substandard care
October 19, 2018 - Incidence of stroke has risen steadily among marijuana users, show studies
October 19, 2018 - Conceptual framework proposed to examine role of exercise in multiple sclerosis
October 19, 2018 - Near infrared spectroscopy technique for accurate evaluation of chondral injuries
October 19, 2018 - Scientists receive $5.1 million grant to develop stem cell-based therapy for blinding retinal conditions
October 19, 2018 - Shorter physician encounters associated with antibiotic prescribing
October 19, 2018 - In the Spotlight: Enjoying research and exploring opportunities
October 19, 2018 - Physical activity lowers cardiovascular mortality risk in frail older adults
October 19, 2018 - New imaging tool helps visualize how sound-induced vibrations travel through the ear
October 19, 2018 - Key insights into the application, production of bioactive materials
October 19, 2018 - New urea sorbent could speed up the development of wearable artificial kidney
October 19, 2018 - Intensive care patients’ muscles less able to use fats for energy
October 19, 2018 - FDA Advisory Committee Recommends Approval of Dsuvia for the Treatment of Moderate-to-Severe Acute Pain
October 19, 2018 - 48,XXXY syndrome – Genetics Home Reference
October 19, 2018 - Physical exercise improves the elimination of toxic proteins from muscles
October 19, 2018 - How a new system improved wait times for Stanford kidney transplant patients
October 19, 2018 - Nutrition has bigger positive impact on bone mass and strength than exercise
October 19, 2018 - Study finds lack of progress in media representation of nurses over last 20 years
October 19, 2018 - Many people have trouble understanding differences between OCD and OCPD
October 19, 2018 - New family planning app found to be as effective as modern methods
Rapid whole-genome sequencing of neonatal ICU patients is useful and cost-effective

Rapid whole-genome sequencing of neonatal ICU patients is useful and cost-effective

image_pdfDownload PDFimage_print
Shimul Chowdhury, PhD, FACMG, Rady Children’s Institute for Genomic Medicine Credit: Graciela Sevilla

Rapid whole-genome sequencing (WGS) of acutely ill neonatal intensive care unit (NICU) patients in the first few days of life yields clinically useful diagnoses in many cases, and results in lower aggregate costs than the current standard of care, according to findings presented at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla.

Shimul Chowdhury, PhD, FACMG, Clinical Laboratory Director at the Rady Children’s Institute for Genomic Medicine, and his colleagues focused their analysis on a broad swath of NICU patients for whom a genetic diagnosis might help inform treatment decisions and disease management. They studied the clinical utility and cost-effectiveness of sequencing infants and their parents.

“Newborns often don’t fit traditional methods of diagnosis, as they may present with non-specific symptoms or display different signs from older children,” said Dr. Chowdhury. In many such cases, he explained, sequencing can pinpoint the cause of illness, yielding a diagnosis that allows doctors to modify inpatient treatment and resulting in dramatically improved medical outcomes in both the short and long term.

Because of the potential for early intervention and immediate adjustment in care, the researchers used a rapid WGS procedure that took three to seven days from sample collection to delivering results to patients’ families. The process can be further accelerated if medically necessary. In contrast, most clinical diagnostic tests take four to six weeks.

In 34 (35%) of the 98 patients enrolled in the study, WGS yielded a genetic diagnosis, and in 28 (80%) of those patients, that diagnosis led to changes in medical management, such as the use of medications targeted to the underlying disease, avoidance of unnecessary surgery, and guidance about palliative care. Cost-effectiveness analyses are ongoing, but among the first 42 infants sequenced, the researchers calculated a $1.3 million net cost savings for that hospitalization versus the current standard of care.

“The cost savings were especially striking, given that sequencing costs are still high – even with those costs, we found that rapid WGS was not just clinically useful but economically prudent,” Dr. Chowdhury said. “Given these benefits, we’d eventually like to see rapid WGS as a reimbursable first-tier test for a proportion of infants in the NICU.”

Currently, the researchers are looking to expand their study and assess the effectiveness of their approach across health systems and populations. This summer, they launched partnerships with children’s hospitals in California and Minnesota, an effort that will involve scaling up the rapid WGS process to meet demand and yield new insights about its clinical utility, cost-effectiveness, and ease of implementation in different environments.

Dr. Chowdhury noted the important contribution of genetics research to their progress so far. “Translational research leading to improvements in the speed and accuracy of sequencing tests is so important to our work, and has a real impact on patients and their families,” he said.


Explore further:
Clinical exome sequencing useful for critically ill infants

More information:
Chowdhury S et al. (2017 Oct 19). Abstract: Clinical utility and cost effectiveness of rapid whole genome sequencing in the neonatal and pediatric intensive care unit. Presented at the American Society of Human Genetics 2017 Annual Meeting. Orlando, Florida. ep70.eventpilotadmin.com/web/p … =ASHG17&id=170122875

Provided by:
American Society of Human Genetics

Tagged with:

About author

Related Articles