Attitudes of French populations towards the disclosure of unsolicited findings in medical genetics

Next-generation sequencing techniques enable unsolicited findings to be detected. This discovery raises ethical questions concerning the return of these findings. Our study aimed to highlight the views of the general public, patients under supervision and health professionals concerning the acceptability of disclosing unsolicited results to patients. In total, 449 participants assessed scenarios, consisted of all combinations of three factors (patient’s information and consent, prevention and treatment of the unsolicited disease and doctor’s decision). The response profiles were grouped into six clusters. The participants took ethical aspects into account, but health professionals also considered the medical aspects to a greater extent.

Download Full-text

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

BioMed Research International ◽

10.1155/2015/161648 ◽

2015 ◽

Vol 2015 ◽

pp. 1-15 ◽

Cited By ~ 21

Author(s):

Vincenza Precone ◽

Valentina Del Monaco ◽

Maria Valeria Esposito ◽

Fatima Domenica Elisa De Palma ◽

Anna Ruocco ◽

...

Keyword(s):

Next Generation Sequencing ◽

Molecular Basis ◽

Human Diseases ◽

Next Generation ◽

Ethical Aspects ◽

Human Genomics ◽

Next Generation Sequencing Ngs ◽

Analytical Approaches ◽

And Storage ◽

Generation Sequencing

Next-generation sequencing (NGS) technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing. These features, together with the technology’s flexibility, have opened the way to a variety of applications including the study of the molecular basis of human diseases. Several analytical approaches have been developed to selectively enrich regions of interest from the whole genome in order to identify germinal and/or somatic sequence variants and to study DNA methylation. These approaches are now widely used in research, and they are already being used in routine molecular diagnostics. However, some issues are still controversial, namely, standardization of methods, data analysis and storage, and ethical aspects. Besides providing an overview of the NGS-based approaches most frequently used to study the molecular basis of human diseases at DNA level, we discuss the principal challenges and applications of NGS in the field of human genomics.

Download Full-text

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

International Journal of Pediatrics ◽

10.1155/2013/136524 ◽

2013 ◽

Vol 2013 ◽

pp. 1-8 ◽

Cited By ~ 4

Author(s):

O. M. Vanakker ◽

A. De Paepe

Keyword(s):

Next Generation Sequencing ◽

Sequence Data ◽

Next Generation ◽

Clinical Implementation ◽

Ethical Aspects ◽

Number Of Genes ◽

Working Groups ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing ◽

Single Reaction

Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found why the application of pharmacogenetics is less than initially anticipated, which include the contradictory results obtained for certain variants and the lack of guidelines for clinical implementation. However, more reproducible results are being generated, and efforts have been made to establish working groups focussing on evidence-based clinical guidelines. For another pharmacogenetic hurdle, the speed by which a pharmacogenetic profile for a certain drug can be obtained in an individual patient, there has been a revolution in molecular genetics through the introduction of next generation sequencing (NGS), making it possible to sequence a large number of genes up to the complete genome in a single reaction. Besides the enthusiasm due to the tremendous increase of our sequencing capacities, several considerations need to be made regarding quality and interpretation of the sequence data as well as ethical aspects of this technology. This paper will focus on the different NGS applications that may be useful for pharmacogenomics in children and the challenges that they bring on.

Download Full-text

Next generation sequencing and rare genetic variants: From human population studies to medical genetics

Environmental and Molecular Mutagenesis ◽

10.1002/em.21799 ◽

2013 ◽

Vol 54 (7) ◽

pp. 518-532 ◽

Cited By ~ 6

Author(s):

Giuseppe Matullo ◽

Cornelia Di Gaetano ◽

Simonetta Guarrera

Keyword(s):

Next Generation Sequencing ◽

Genetic Variants ◽

Human Population ◽

Population Studies ◽

Medical Genetics ◽

Next Generation ◽

Rare Genetic Variants ◽

Generation Sequencing

Download Full-text

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

International Journal of Neonatal Screening ◽

10.3390/ijns7040076 ◽

2021 ◽

Vol 7 (4) ◽

pp. 76

Author(s):

Kuntal Sen ◽

Jennifer Harmon ◽

Andrea L. Gropman

Keyword(s):

Public Health ◽

Next Generation Sequencing ◽

Newborn Screening ◽

Critically Ill ◽

Diagnostic Yield ◽

Genomic Medicine ◽

Screening Tests ◽

Next Generation ◽

Ethical Aspects ◽

Generation Sequencing

In this review, we analyze medical and select ethical aspects of the increasing use of next-generation sequencing (NGS) based tests in newborn medicine. In the last five years, there have been several studies exploring the role of rapid exome sequencing (ES) and genome sequencing (GS) in critically ill newborns. While the advantages include a high diagnostic yield with potential changes in interventions, there have been ethical dilemmas surrounding consent, information about adult-onset diseases and resolution of variants of uncertain significance. Another active area of research includes a cohort of studies funded under Newborn Sequencing in Genomic Medicine and Public Health pertaining to the use of ES and GS in newborn screening (NBS). While these techniques may allow for screening for several genetic disorders that do not have a detectable biochemical marker, the high costs and long turnaround times of these tests are barriers in their utilization as public health screening tests. Discordant results between conventional NBS and ES-based NBS, as well as challenges with consent, are other potential pitfalls of this approach. Please see the Bush, Al-Hertani and Bodamer article in this Special Issue for the broader scope and further discussion.

Download Full-text