Nav: Home

Researchers evaluate cost-effectiveness of noninvasive prenatal screening in Quebec

October 19, 2016

BETHESDA, MD - Adding non-invasive prenatal genetic screening (NIPS) for fetal chromosomal abnormalities to the current prenatal testing strategy in Quebec would be more cost-effective than current approaches based on blood tests and amniocentesis, according to research presented at the American Society of Human Genetics (ASHG) 2016 Annual Meeting in Vancouver, B.C.

Healthy human body cells contain 23 pairs of chromosomes, for a total of 46. However, errors during the cell replication process can cause the chromosomes to distribute unevenly, a condition known as aneuploidy. Led by Francois Rousseau, MD, MSc, Professor of Medicine at the Université Laval in Quebec City, Quebec, a diverse group of scientists, physicians, health economists, and laboratory physicians used a complex computer simulation to compare the cost-effectiveness of 13 protocols for prenatal testing for fetal aneuploidies such as Down syndrome: Six that are commonly used in countries around the world; six that add NIPS, a blood test of cell-free DNA in the mother's blood, to those common procedures; and one that uses NIPS only. Current protocols generally start with a blood test, followed by amniocentesis if the blood test indicates high risk of aneuploidy.

NIPS is less invasive than amniocentesis and thus less risky for pregnant women and fetuses, but unlike amniocentesis, it is not a definitive diagnostic test, Dr. Rousseau explained. "In addition to being safer, we wanted to find out whether the introduction of NIPS as a first- or second-tier test would be more cost-effective than current options in the context of the health system in Quebec," he said.

To answer this question, Dr. Rousseau and colleagues developed a computer simulation for each of the 13 protocols they studied. Based on real data from the Ministry of Health on 113,000 pregnancies in Quebec in 2014, they created decision trees of the steps that would have been taken in those pregnancies if each protocol was followed, accounting for real-world factors such as families that opt out of the screening program and loss to follow-up. They then assigned a cost to each procedure followed and computed the total cost to the healthcare system for each protocol. This was divided by the number of Down syndrome cases detected to calculate the cost per case detected. For the protocols with NIPS, the researchers also calculated the incremental cost per case detected - the extra cost per case detected that would not have been detected without NIPS.

Each simulation was run 1000 times to evaluate the consistency of the results. This was followed by sensitivity analyses, in which the researchers tried changing variables such as participation rates and costs of NIPS to measure whether the relative cost-effectiveness of protocols changed as a result.

"Using these measures, we found that a Serum Integrated option, followed by NIPS for women at high risk, was the most cost-effective," Dr. Rousseau said. This approach entails a blood test at 10 weeks into gestation, followed by a second blood test at 12-14 weeks. For blood test results indicating high risk (about 1 in 300), NIPS is performed within a week, and when NIPS confirms there is a risk, amniocentesis is performed and a diagnosis is made as appropriate. This approach would reduce the number of amniocentesis procedures performed by about 90 percent.

A Serum Integrated option without the intermediate step of NIPS, the approach currently used in Quebec, was second-most cost-effective. In contrast, the universal NIPS option was least cost-effective. The sensitivity analyses showed that these results held even if the cost of NIPS was halved.

In addition to accounting for a range of possibilities in Quebec, the sensitivity analysis data may help other health jurisdictions extrapolate the findings to their own areas, Dr. Rousseau noted. Costs of procedures and participation rates can vary geographically, and prenatal screening decisionmakers can use the scenarios closest to their own context to evaluate the cost-effectiveness of various protocols with and without NIPS.

"Ours was the first study to compare the cost-effectiveness of NIPS approaches in the Quebec context, and the simulations were a great way to evaluate so many options head to head," Dr. Rousseau said. They accounted for many real-world challenges in the program, which were validated by two independent groups of experts.

"The next steps would be to perform a budget impact analysis and to do a pilot test or clinical trial of the one or two most promising options to see how these results play out in the health care system," he said.
-end-
This work is part of PEGASUS, a larger project examining the effectiveness of different NIPS approaches as compared to existing practice; the health economics of NIPS; the ethical, legal, and social issues related to this technology; as well as implementation challenges. PEGASUS is funded by Genome Canada, the Canadian Institutes for Health Research, Genome Québec, Genome BC, Genome Alberta, and other partners.

Presentation: Dr. Rousseau will present his research on Wednesday, October 19, 2016, from 10:15-10:30 a.m., in Room 109 of the Vancouver Convention Centre, West Building.

Press Availability: Dr. Rousseau will be available to discuss this research with interested media on Wednesday, October 19, 2016, from 2:00-2:45 p.m. in the ASHG 2016 Press Office (Room 111).

References: Rousseau F et al. (2016 Oct 19). Abstract: Noninvasive prenatal screening for common aneuploidies in a Canadian province: A cost effectiveness analysis. Presented at the American Society of Human Genetics 2016 Annual Meeting. Vancouver, B.C., Canada.

American Society of Human Genetics

Related Health Articles:

Public health guidelines aim to lower health risks of cannabis use
Canada's Lower-Risk Cannabis Use Guidelines, released today with the endorsement of key medical and public health organizations, provide 10 science-based recommendations to enable cannabis users to reduce their health risks.
Generous health insurance plans encourage overtreatment, but may not improve health
Offering comprehensive health insurance plans with low deductibles and co-pay in exchange for higher annual premiums seems like a good value for the risk averse, and a profitable product for insurance companies.
The Lancet Planetary Health: Food, climate, greenhouse gas emissions and health
Increasing temperatures, water scarcity, availability of agricultural land, biodiversity loss and climate change threaten to reverse health gains seen over the last century.
With health insurance at risk, community health centers face cut-backs
Repeal of key provisions of the Affordable Care Act, combined with a failure to renew critical funding streams, would result in catastrophic funding losses for community health centers-forcing these safety net providers to cut back on services, lay off staff or shut down clinical sites, according to a report published today.
Study clusters health behavior groups to broaden public health interventions
A new study led by a University of Kansas researcher has used national health statistics and identified how to cluster seven health behavior groups based on smoking status, alcohol use, physical activity, physician visits and flu vaccination are associated with mortality.
Tailored preventive oral health intervention improves dental health among elderly
A tailored preventive oral health intervention significantly improved the cleanliness of teeth and dentures among elderly home care clients.
Study finds that people are attracted to outward signs of health, not actual health
Findings published in the journal Behavioral Ecology reveal that skin with yellow and red pigments is perceived as more attractive in Caucasian males, but this skin coloring does not necessarily signal actual good health.
In the January Health Affairs: Brazil's primary health care expansion
The January issue of Health Affairs includes a study that explores a much-discussed issue in global health: the role of governance in improving health, which is widely recognized as necessary but is difficult to tie to actual outcomes.
University of Rochester and West Health Collaborate on d.health Summit 2017
In collaboration with West Health, the University of Rochester is hosting the third annual d.health Summit, a forum for health care and technology leaders, entrepreneurs, senior care advocates and policymakers to exchange ideas, create new partnerships, and foster disruptive technological and process innovations to improve the lives of the nation's aging population.
Study links health literacy to higher levels of health insurance coverage
The federal Affordable Care Act is intended to make it easier for individuals to buy health insurance, but are the uninsured equipped to navigate the choices faced in the insurance marketplace?

Related Health Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Climate Crisis
There's no greater threat to humanity than climate change. What can we do to stop the worst consequences? This hour, TED speakers explore how we can save our planet and whether we can do it in time. Guests include climate activist Greta Thunberg, chemical engineer Jennifer Wilcox, research scientist Sean Davis, food innovator Bruce Friedrich, and psychologist Per Espen Stoknes.
Now Playing: Science for the People

#527 Honey I CRISPR'd the Kids
This week we're coming to you from Awesome Con in Washington, D.C. There, host Bethany Brookshire led a panel of three amazing guests to talk about the promise and perils of CRISPR, and what happens now that CRISPR babies have (maybe?) been born. Featuring science writer Tina Saey, molecular biologist Anne Simon, and bioethicist Alan Regenberg. A Nobel Prize winner argues banning CRISPR babies won’t work Geneticists push for a 5-year global ban on gene-edited babies A CRISPR spin-off causes unintended typos in DNA News of the first gene-edited babies ignited a firestorm The researcher who created CRISPR twins defends...