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Record W4312095181 · doi:10.1038/s41431-022-01253-0

Research priorities in psychiatric genetic counselling: how to talk to children and adolescents about genetics and psychiatric disorders

2022· article· en· W4312095181 on OpenAlexaff
Jessica Mundy, Helena L. Davies, Mădălina Radu, Jehannine Austin, Evangelos Vassos, Thalia C. Eley, Gerome Breen, Ramona Moldovan

Bibliographic record

VenueEuropean Journal of Human Genetics · 2022
Typearticle
Languageen
FieldHealth Professions
TopicChild and Adolescent Health
Canadian institutionsBC Mental Health & Substance Use ServicesUniversity of British Columbia
FundersMedical Research CouncilManchester Biomedical Research CentreLeverhulme TrustNational Institute for Health and Care ResearchDepartment of Health and Social CareEconomic and Social Research CouncilSouth London and Maudsley NHS Foundation Trust
KeywordsPsychiatric geneticsPsychiatryGenetic counselingMedical geneticsPsychologyHuman geneticsMedicineGeneticsSchizophrenia (object-oriented programming)BiologyGene

Abstract

fetched live from OpenAlex

It is now well established that mental health disorders are heritable [ 1 ]. Genetic counselling is a process through which a trained professional helps an individual to better understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease [ 2 ]. As of yet, no genetic tests to confirm a psychiatric diagnosis exist and alone they are unlikely to be sufficient for diagnosis. However, a formal genetic test is not required for the delivery of genetic counselling and for the benefits to be realised [ 3 ]. Psychiatric genetic counselling is conceptually identical to genetic counselling for other types of disorders and its efficacy for adults diagnosed with psychiatric disorders and their family members has been documented [ 4 ]. We are now entering an era in which genetic information is likely to become far more available as it is gradually integrated into healthcare. Thus, how to effectively communicate complex genetic risk information is of high research priority. Communicating genetic risk for psychiatric disorders comes with many challenges due to their complex and multifactorial nature. Nonetheless, psychiatric genetic counselling is associated with a number of positive immediate and long-term outcomes [ 4 ]. For instance, psychiatric genetic counselling can tackle misconceptions about causes of illness, address genetic and/or environmental determinism, empower and reduce shame and/or guilt, change one’s approach to treatment, and enable more informed decision-making regarding major life decisions, such as having children [ 4 ]. Such established benefits suggest that psychiatric genetic counselling will become an important part of clinical care for psychiatric patients in the future. Half of mental health disorders start before the age of 14 [ 5 ], with 1 in 7 young people between 10 to 19 years old experiencing mental ill health [ 6 ]. Thus, childhood or adolescence could be a particularly suitable window within which to receive psychiatric genetic counselling. This may prevent misconceptions about the causes of one’s mental illness, manage stigmatising beliefs related to personal or family history of mental health problems [ 7 ], and encourage risk-reducing behaviours [ 8 , 9 ]. Psychiatric genetic counselling could also have a positive impact on parents and caregivers, who often feel responsible for their child’s mental health and may experience feelings of guilt, shame, or a heavy burden of responsibility [ 10 ]. Such feelings may be partially rooted in a limited understanding of the contributions of genetic and environmental factors to mental disorders [ 11 ]. This can have a variety of negative behavioural consequences such as not seeking out suitable support for their child or potentially limiting the number of their future children [ 12 , 13 ].

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Science and technology studies
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.022
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0020.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.002
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.042
GPT teacher head0.374
Teacher spread0.333 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations4
Published2022
Admission routes1
Has abstractyes

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