Evidence map›Paper›PMID 31231544›Full record

ReviewNPJ genomic medicine2019

Implementation of genomics in medical practice to deliver precision medicine for an Asian population.

Yasmin Bylstra, Sonia Davila, Weng Khong Lim, Ryanne Wu, Jing Xian Teo, Sylvia Kam, Tamra Lysaght, Steve Rozen, Bin Tean Teh, Khung Keong Yeo and 3 more

Abstract readReview
In one paragraph

Review in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Observational
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Yasmin Bylstra1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.ORCID 0000-0002-6420-2272
Sonia Davila1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Weng Khong Lim1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Ryanne Wu4Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC USA.
Jing Xian Teo1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Sylvia Kam1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.ORCID 0000-0001-7704-1917
Tamra Lysaght6Centre of Biomedical Ethics, National University Hospital, Singapore, Singapore.
Steve Rozen1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Bin Tean Teh1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.ORCID 0000-0003-1514-1124
Khung Keong Yeo8Department of Cardiology, National Heart Centre, Singapore, Singapore.
Stuart A Cook1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.ORCID 0000-0001-6628-194X
Patrick Tan1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Saumya Shekhar Jamuar1SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported initiatives involving European-derived populations. We have addressed these variables by developing an evolving reference base of genomic and phenotypic data and a framework to return medically significant variants to consenting research participants applicable for the Asian context. Targeting 10,000 participants, over 2000 Singaporeans, with no known pre-existing health conditions, have consented to an extensive clinical health screen, family health history collection, genome sequencing and ongoing follow-up. Genomic variants in a subset of genes associated with Mendelian disorders and drug responses are analysed using an in-house bioinformatics pipeline. A multidisciplinary team reviews the classification of variants and a research report is generated. Medically significant variants are returned to consenting participants through a bespoke return-of-result genomics clinic. Variant validation and subsequent clinical referral are advised as appropriate. The design and implementation of this flexible learning framework enables a cohort of detailed phenotyping and genotyping of healthy Singaporeans to be established and the frequency of disease-causing variants in this population to be determined. Our findings will contribute to international precision medicine initiatives, bridging gaps with ethnic-specific data and insights from this understudied population.

Indexed as

Genetics researchGenetic testingPreventive medicine

Identifiers

PMID31231544
PMCPMC6555782

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.