Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Fall;24(2):123-7.
Epub 2015 Aug 31.

Next Generation Sequencing and Health Technology Assessment in Autism Spectrum Disorder

Wendy J Ungar  1
Affiliations

Next Generation Sequencing and Health Technology Assessment in Autism Spectrum Disorder

Wendy J Ungar. J Can Acad Child Adolesc Psychiatry. 2015 Fall.

Abstract
in English, French

Next generation sequencing (NGS) is a new genome-based technology showing great promise in delineating the genetic basis of autism thus facilitating diagnosis and in the future, the selection of treatment. NGS can have a targeted use as well as provide clinically important findings from medically actionable variants regarding the risk of other disorders. As more is learned about the genomic basis of autism, the clinical utility of the risk information will increase. But at what cost? As the medical management that ensues from primary and secondary (incidental) findings grows, there will be increased pressure on sub-specialists with a longer and more circuitous pathway to care. This will result in higher costs to health care systems and to families. Health technology assessment is needed to measure the additional costs associated with NGS compared to standard care and to weigh these costs against additional health benefits. Well-designed data collection systems should be implemented early in clinical translation of this technology to enable assessment of clinical utility and cost-effectiveness and to generate high quality evidence to inform clinical and budget allocation decision-making.

Le séquençage de nouvelle génération (SNG) est une nouvelle technologie basée sur le génome qui promet beaucoup pour délimiter la base génétique de l’autisme, facilitant ainsi le diagnostic et à l’avenir, le choix du traitement. Le SNG peut avoir une utilisation ciblée et procurer d’importants résultats cliniques de variantes médicalement actionnables à l’égard du risque d’autres troubles. À mesure que nous en apprenons davantage sur la base génomique de l’autisme, l’utilité clinique de l’information sur le risque va s’accroître. Mais à quel prix? Comme la prise en charge médicale qui suit les découvertes primaires et secondaires (connexes) s’intensifie, plus de pression s’exercera sur les surspécialistes qui ont une trajectoire de soins plus longue et indirecte. Il en résultera des coûts plus élevés pour les systèmes de santé et les familles. L’évaluation de la technologie de la santé est nécessaire pour mesurer les frais additionnels associés au SNG comparativement aux soins standards et pour mettre ces frais en balance contre les avantages additionnels pour la santé. Des systèmes de collecte de données bien conçus devraient être mis en œuvre au début de la traduction clinique de cette technologie pour permettre l’évaluation de l’utilité clinique et de la rentabilité, et pour produire des données probantes de grande qualité afin d’éclairer la prise de décisions cliniques et l’allocation budgétaire.

Keywords: autism; cost-effectiveness; diagnosis; health technology assessment; next generation sequencing.

PubMed Disclaimer

References

    1. Anagnostou E, Zwaigenbaum L, Szatmari P, Fombonne E, Fernandez BA, Woodbury-Smith M, Scherer SW. Autism spectrum disorder: Advances in evidence-based practice. Canadian Medical Association Journal. 2014;186(7):509–519. - PMC - PubMed
    1. Bennette CS, Gallego CJ, Burke W, Jarvik GP, Veenstra DL. The cost-effectiveness of returning incidental findings from next-generation sequencing. Genetics in Medicine. 2014 doi: 10.1038/gim.2014.146. - DOI - PMC - PubMed
    1. Canadian Agency for Drugs and Technologies in Health . Guidelines for the economic evaluation of health technologies: Canada. Ottawa: Canadian Agency for Drugs and Technologies in Health; 2006.
    1. Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: A review. Clinical Genetics. 2013;83(5):399–407. - PubMed
    1. Caulfield T, Evans J, McGuire A, McCabe C, Bubela T, Cook-Deegan R, Wilson B. Reflections on the cost of “low-cost” whole genome sequencing: Framing the health policy debate. PLoS Biology. 2013;11(11):e1001699. doi: 10.1371/journal.pbio.1001699. - DOI - PMC - PubMed

LinkOut - more resources