[HTML][HTML] Pharmacogenomic testing: clinical evidence and implementation challenges

C Hippman, C Nislow - Journal of personalized medicine, 2019 - mdpi.com
Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic
make-up and lowering risk of serious adverse events. As of June 2019, there are 132 …

Whole exome sequencing: applications in prenatal genetics

AC Jelin, N Vora - Obstetrics and Gynecology Clinics, 2018 - obgyn.theclinics.com
BACKGROUND Ultrasonography-detected fetal sonographic abnormalities are identified in
2% to 3% of pregnancies. 1 Genetic diagnosis with amniocentesis or chorionic villus …

Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing

R Horn, M Parker - Prenatal diagnosis, 2018 - Wiley Online Library
Objective The development of genomic approaches to prenatal testing such as whole
genome and exome sequencing offers the potential for a better understanding of prenatal …

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

M Tetreault, E Bareke, J Nadaf, N Alirezaie… - Expert review of …, 2015 - Taylor & Francis
Whole-exome sequencing (WES) represents a significant breakthrough in the field of human
genetics. This technology has largely contributed to the identification of new disease …

[HTML][HTML] Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

S White, T Mossfield, J Fleming… - European Journal of …, 2023 - nature.com
Since the introduction of genome sequencing in medicine, the factors involved in deciding
how to integrate this technology into population screening programs such as Newborn …

[HTML][HTML] Ethical issues related to research on genome editing in human embryos

E Niemiec, HC Howard - Computational and structural biotechnology …, 2020 - Elsevier
Although the potential advantages of clinical germline genome editing (GGE) over currently
available methods are limited, the implementation of GGE in the clinic has been proposed …

Defining and managing incidental findings in genetic and genomic practice

S Shkedi-Rafid, S Dheensa, G Crawford… - Journal of medical …, 2014 - jmg.bmj.com
The rapidly declining costs and increasing speeds of whole-genome analysis mean that
genetic testing is undergoing a shift from targeted approaches to broader ones that look at …

Communication skills training for healthcare professionals in providing genetic counseling: A scoping literature review

NM Medendorp, LM van den Heuvel, PKJ Han… - Patient education and …, 2021 - Elsevier
Objective Genetic counselors need advanced communication skills, particularly when
discussing tests involving massively parallel sequencing. Increasingly, non-genetic …

Prenatal whole‐exome sequencing: parental attitudes

EJ Kalynchuk, A Althouse, LS Parker… - Prenatal …, 2015 - Wiley Online Library
Objective The aim of this study was to survey the opinions of expectant parents regarding
prenatal whole‐exome sequencing. Methods The study used a questionnaire that focused …

Current ethical and legal issues in health-related direct-to-consumer genetic testing

E Niemiec, L Kalokairinou, HC Howard - Personalized Medicine, 2017 - Future Medicine
A variety of health-related genetic testing is currently advertized directly to consumers. This
article provides a timely overview of direct-to-consumer genetic testing (DTC GT) and salient …