Implications of direct-to-consumer whole-exome sequencing in South Africa.

S Afr Med J

Southern African Society for Human Genetics, Johannesburg, South Africa; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service, University of the Witwatersrand, Johannesburg, South Africa.

Published: January 2016

This editorial examines a number of vitally important ethical, legal and scientific concerns that have to be addressed to ensure proper and ethical implementation of direct-to-consumer whole-exome sequencing in South Africa. Individuals taking part in this endeavour must be fully informed of the positive and negative sequelae.

Download full-text PDF

Source
http://dx.doi.org/10.7196/SAMJ.2016.v106i2.10534DOI Listing

Publication Analysis

Top Keywords

direct-to-consumer whole-exome
8
whole-exome sequencing
8
sequencing south
8
south africa
8
implications direct-to-consumer
4
africa editorial
4
editorial examines
4
examines number
4
number vitally
4
vitally ethical
4

Similar Publications

Introduction: Advances in sequencing technologies have enabled extensive genetic testing on an individual basis. Genome-wide association studies (GWAS) have provided insight into the pathophysiology of PD. Additionally, direct-to-consumer genetic testing has enabled the identification of genetic diseases and risk factors without genetic counselling.

View Article and Find Full Text PDF
Article Synopsis
  • There has been a surge in whole genome sequencing data from research projects and consumer services, but a gap exists for free tools that simplify data interpretation for users.
  • GenomeChronicler was created by the Personal Genome Project UK to fill this gap, generating reports on genetic variants, ancestry, and traits based on open-access genomic data.
  • Reports can highlight beneficial and harmful variants using data from sources like SNPedia and ClinVar, and the tool can operate offline, ensuring privacy while offering flexible use for individual or batch sample analysis.
View Article and Find Full Text PDF

Direct-to-consumer (DTC) commercial companies offer genetic tests that are presented as allowing individuals the opportunity to increase their capacities to be in charge of their own healthcare managements. DTC companies deny performing medical tests, yet they provide data based on sequencing multigene panel or whole exome. This contradiction allows these companies to escape the requirements of a regulated medical practice that guarantees the quality of the tests, as well as the information and support for tested individuals.

View Article and Find Full Text PDF

Counseling after consumer-driven whole exome sequencing (WES) and whole genome sequencing (WGS) presents challenges for genetic counselors as availability of this testing increases. There are no standard practice guidelines and limited resources for genetic counselors in this area, but consumer demand for counseling and data interpretation exists and is likely to grow along with testing opportunities. In this paper, we comment upon our experiences as three independent, private practice genetic counselors who have provided counseling services for clients with WES/WGS reports and data.

View Article and Find Full Text PDF

The possible integration of genomic sequencing (including whole-genome and whole-exome sequencing) into the three contexts addressed in this special report-state-mandated screening programs, clinical care, and direct-to-consumer services-raises related but distinct legal issues. This essay will outline the legal issues surrounding the integration of genomic sequencing into state newborn screening programs, parental rights to refuse and access sequencing for their newborns in clinical and direct-to-consumer care, and privacy-related legal issues attending the use of sequencing in newborns.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!