Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe

Abstract

Developments in "-omics" are creating a paradigm shift in laboratory medicine leading to personalized medicine. This allows the increase in diagnostics and therapeutics focused on individuals rather than populations. In order to investigate whether laboratory medicine is ready to play a key role in the integration of personalized medicine in routine health care and set the state-of-the-art knowledge about personalized medicine and laboratory medicine in Europe, a questionnaire was constructed under the auspices of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) and the European Society of Pharmacogenomics and Personalised Therapy (ESPT). The answers of the participating laboratory medicine professionals indicate that they are aware that personalized medicine can represent a new and promising health model, and that laboratory medicine should play a key role in supporting the implementation of personalized medicine in the clinical setting. Participants think that the current organization of laboratory medicine needs additional/relevant implementations such as (i) new technological facilities in -omics; (ii) additional training for the current personnel focused on the new methodologies; (iii) incorporation in the laboratory of new competencies in data interpretation and counseling; and (iv) cooperation and collaboration among professionals of different disciplines to integrate information according to a personalized medicine approach.

Next-Generation Sequencing in Newborn Screening: A Review of Current State

“…Another emerging field that would benefit greatly from the data obtained with WGS is personalized medicine, namely pharmacogenomic, which could use genomic data from NBS later in life, to determine patients’ specific drug-metabolizing traits. According to the working group of the personalized laboratory medicine of the European Federation of Laboratory Medicine, there are some recognized organizational shortcomings that impede the progress of pharmacogenomics, among them technological and methodological deficits ( Malentacchi et al, 2015 ; Karas Kuželički et al, 2019 ). WGS also enables research of non-coding regions that we know can harbor deleterious variants ( Meienberg et al, 2016 ) but are more challenging to properly interpret.…”

“…With the genome or at least parts of it at our disposal, it remains to be determined which variants would be included in the report and returned to the parents in the end. Considering information obtained with WGS, the data will contain many very different types of genetic variants, from known variants in genes for monogenic conditions to polygenic conditions, childhood-onset to late-onset disorders, and autosomal dominant or recessive (homozygous or carrier) to X-linked or mitochondrial; variants for certain predispositions with variable penetrance and pharmacogenomic data; and last but not least, VUS ( Wade et al, 2013 ; Malentacchi et al, 2015 ). In the case of WGS or WES, we must take into account that the acquired information will include all of the genes even the ones whose clinical significance is not yet understood.…”