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
Review
. 2016 Sep;18(3):237-252.
doi: 10.31887/DCNS.2016.18.3/aneed.

Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation

Anna C Need  1 , David B Goldstein  2
Affiliations
Review

Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation

Anna C Need et al. Dialogues Clin Neurosci. 2016 Sep.

Abstract
in English, Spanish, French

Only a few years after its development, next-generation sequencing is rapidly becoming an essential part of clinical care for patients with serious neurological conditions, especially in the diagnosis of early-onset and severe presentations. Beyond this diagnostic role, there has been an explosion in definitive gene discovery in a range of neuropsychiatric diseases. This is providing new pointers to underlying disease biology and is beginning to outline a new framework for genetic stratification of neuropsychiatric disease, with clear relevance to both individual treatment optimization and clinical trial design. Here, we outline these developments and chart the expected impact on the treatment of neurological, neurodevelopmental, and psychiatric disease.

Solo unos pocos años después de su descubrimiento, la secuenciación de nueva generación se está constituyendo rápidamente en una parte esencial del cuidado clínico de los pacientes con patologías neurológicas serias, especialmente en el diagnóstico de cuadros de aparición precoz y grave. Más allá de este papel diagnóstico, ha constituido una explosión en el descubrimiento de genes definitivos en una amplia variedad de enfermedades neuropsiquiátricas. Esto está aportando nuevos indicadores para sustentar la biología de la enfermedad y se está empezando a perfilar un nuevo marco de referencia para la estratificación genética de las enfermedades neuropsiquiátricas, con especial relevancia tanto en la optimización del tratamiento individual como en el diseño de ensayos clínicos. En este artículo se resumen estos desarrollos y se proyecta el impacto esperado en el tratamiento de enfermedades neurológicas, del neurodesarrollo y psiquiátricas.

Quelques années seulement après son développement, la nouvelle génération de séquençage est rapidement devenue une part essentielle des traitements pour les patients atteints de maladies neurologiques graves, surtout dans le diagnostic des tableaux sévères et d'installation précoce. Au-delà de ce rôle diagnostique, de très nombreux gènes ont été formellement impliqués dans plusieurs maladies neuropsychiatriques. L'explosion de ces découvertes a fourni de nouvelles indications sur les mécanismes sous-tendant ces maladies et a permis d'établir une ébauche de leur stratification génétique, ce qui est très utile à la fois pour optimiser les traitements individuels et pour planifier les études cliniques. Dans cet article, nous soulignons ces évolutions et retraçons l'impact attendu sur le traitement de la maladie neurologique, neurodéveloppementale et psychiatrique.

Keywords: GWAS; diagnostic; exome; genome; next-generation.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Chong JX., Buckingham KJ., Jhangiani SN., et al The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet. 2015;97(2):199–215. - PMC - PubMed
    1. Cirulli ET., Lasseigne BN., Petrovski S., et al Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015;347(6229):1436–1441. - PMC - PubMed
    1. Singh T., Kurki Ml., Curtis D., et al Rare loss-of-function variants in SET-D1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016;19(4):571–577. - PMC - PubMed
    1. Shashi V., McConkie-Rosell A., Rosell B., et al The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014;16(2):176–182. - PubMed
    1. Need AC., Shashi V., Hitomi Y., et al Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet. 2012;49(6):353–361. - PMC - PubMed

LinkOut - more resources