NDLI: Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Please wait, while we are loading the content...

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Content Provider	Scilit
Author	Downie, Lilian Halliday, Jane Lewis, Sharon Lunke, Sebastian Lynch, Elly Martyn, Melissa Gaff, Clara Jarmolowicz, Anna Amor, David J.
Copyright Year	2020
Description	Journal: Genetics in Medicine Purpose Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology safely and effectively. We investigated the choices made by a diverse group of parents with newborns when offered tiered genomic information from exome sequencing. Methods This population-derived cohort comprised infants with congenital deafness. Parents were offered exome sequencing and choice regarding the scope of analysis. Options were choice A, diagnostic analysis only; choice B, diagnostic analysis plus childhood-onset diseases with medical actionability; or choice C, diagnostic analysis plus childhood-onset diseases with or without medical actionability. Results Of the 106 participants, 72 (68%) consented to receive additional findings with 29 (27.4%) selecting choice B and 43 (40.6%) opting for choice C. Family size, ethnicity, and age of infant at time of recruitment were the significant predictors of choice. Parents who opted to have additional findings analysis demonstrated less anxiety and decisional conflict. Conclusions These data provide evidence from a culturally diverse population that choice around additional findings is important and the age of the infant when this choice is offered impacts on their decision. We found no evidence that offering different levels of genomic information to parents of newborns has a negative psychological impact.
Related Links	https://www.nature.com/articles/s41436-019-0745-1.pdf
Ending Page	944
Page Count	8
Starting Page	937
ISSN	10983600
DOI	10.1038/s41436-019-0745-1
Journal	Genetics in Medicine
Issue Number	5
Volume Number	22
Language	English
Publisher	Elsevier BV
Publisher Date	2020-01-24
Access Restriction	Open
Subject Keyword	Journal: Genetics in Medicine Medical Ethics Pediatrics and Child Health Genomic Sequencing Newborn Screening Newborn Sequencing Exome Sequencing
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

The BabySeq project: implementing genomic sequencing in newborns

When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Genomic newborn screening: public health policy considerations and recommendations

Various aspects of hearing loss in newborns: A narrative review.

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Similar Documents

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

The BabySeq project: implementing genomic sequencing in newborns

When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Genomic newborn screening: public health policy considerations and recommendations

Various aspects of hearing loss in newborns: A narrative review.

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project