Next-generation sequencing in newborn screening: a review of current state

ZI Remec, K Trebusak Podkrajsek… - Frontiers in …, 2021 - frontiersin.org
Newborn screening was first introduced at the beginning of the 1960s with the successful
implementation of the first phenylketonuria screening programs. Early expansion of the …

[HTML][HTML] The composition and capacity of the clinical genetics workforce in high-income countries: a sco** review

N Dragojlovic, K Borle, N Kopac, U Ellis, P Birch… - Genetics in …, 2020 - Elsevier
As genetics becomes increasingly integrated into all areas of health care and the use of
complex genetic tests continues to grow, the clinical genetics workforce will likely face …

[HTML][HTML] From human cytogenetics to human chromosomics

T Liehr - International journal of molecular sciences, 2019 - mdpi.com
Background: The concept of “chromosomics” was introduced by Prof. Uwe Claussen in
2005. Herein, the growing insights into human chromosome structure finally lead to a …

[HTML][HTML] Current issues, challenges, and future perspectives of genetic counseling in Korea

N Kim, SY Kong, J Yoo, DH Kim… - Annals of laboratory …, 2022 - synapse.koreamed.org
Genetic testing has become increasingly integrated into all areas of healthcare, and
complex genetic testing usage continues to grow; thus, the demand for genetic counseling …

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories

R Hochstenbach, T Liehr, RJ Hastings - European Journal of Human …, 2021 - nature.com
Participation of clinical genetic laboratories in External Quality Assessment schemes (EQAs)
is a powerful method to ascertain if any improvement or additional training is required in the …

The provision of genetic testing and related services in Quebec, Canada

B Unim, C De Vito, J Hagan, P Villari… - Frontiers in …, 2020 - frontiersin.org
Background Research in the field of genomics and genetics has evolved in recent years and
so has the demand of consumers who are increasingly interested in genomic prediction of …

[HTML][HTML] Exploring current challenges in the technologist workforce of clinical genomics laboratories

Y Akkari, S Dobin, RG Best, ML Leung - Genetics in Medicine Open, 2023 - Elsevier
Purpose Workforce shortages are observed in many sectors of the economy, including
clinical genomics laboratories. Although medical technologists are essential for the primary …

The need for recognition of core professional groups in genetics healthcare services in Europe

M Paneque, T Liehr, C Serra Juhé, U Moog… - European Journal of …, 2022 - nature.com
Genetic services have been in the forefront of the greatest technological and scientific
progress in the field of medical sciences and diagnostics in recent decades [1, 2]. The …

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

T Liehr, IM Carreira, Z Balogh, ED Garrido… - European journal of …, 2019 - nature.com
Specialists of human genetic diagnostics can be divided into four groups: Medical
Geneticists (MDG), Genetic Nurses and/or Counsellors (GN/GC), Clinical Laboratory …

First experiences with the introduction of genetic counselors in human genetic services in the German‐speaking countries

S Heidemann, J Zschocke… - Journal of Genetic …, 2024 - Wiley Online Library
Abstract In 2019, the Medical University of Innsbruck introduced the first Genetic and
Genomic Counseling master's program in the German‐speaking countries. A major …