How do genetic tests answer questions about neurodevelopmental differences? A sociological take

Abstract

When it comes to neurodevelopmental differences, a genetic test result can provide compelling answers. However, it is not always clear what the relevant question is. If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomy X, or 22q11.2 deletion syndromes on people with neurodevelopmental differences, we must be mindful about what exactly a genetic test is supposed to tell us, where and for whom it matters, and which avenues for action it opens or forecloses. These are all moving targets. Specifically, I discuss the shifting ways a genetic test result can answer the following questions. What is this person's diagnosis? What symptoms and developmental differences are they likely to experience? What is the best way to approach their development, treatment, and care? Will they have a life worth living? When you unpack the sociological nuances of each question, the history behind them, and the uneven ways they are asked, the meanings of the answers change quite radically. I discuss the implications for social inequalities and urge experts and stakeholders to exercise agency when they interpret a genetic diagnosis. What this paper adds The questions a genetic test can answer depend on a range of social factors. Whether and how a genetic test result affects diagnosis, identity, prognosis, and treatment is a moving target. Genetics creates questions about a life worth living that it cannot answer alone. Stakeholders must choose the questions about neurodevelopmental differences that genetics should answer.

Genetic tests for neurodevelopmental differences: Can we and should we?

“…Mandatory items of the CDEs are considered as a minimum data set (MDS). The article by Wilson et al 1 presents the results of an online Delphi survey carried out to establish CDEs and a MDS with the aim to standardize and harmonize phenotypic data in view of further genomic studies in cerebral palsy (CP). Therefore, this is a preliminary step to establish phenotypegenotype and maybe even phenotype-epigenotype correlations based on multiple federated cohorts of individuals with CP.…”

“…Genetic testing for neurodevelopmental differences has been of considerable interest to genetic researchers, and a subject of some controversy amongst communities who would be affected by these tests. Navon 1 has written a thoughtful review paper, from a sociological perspective, about the potential use of genetic tests for neurodevelopmental differences. In his review, Navon poses four pertinent questions.…”

“…In his review, Navon poses four pertinent questions. (1) Can genetic tests reveal an individual's diagnosis? (2) Can such tests tell us what developmental differences an individual will experience?…”