Advances in Molecular Pathology, 2021 (Volume 4-1).  ORIGINAL PDF /PRINT REPLICA

This past year brought struggles and challenges to
the entire world, including molecular diagnostic
laboratories, due to the ongoing severe acute res-
piratory syndrome coronavirus 2 (SARS-CoV-2)
pandemic. Overcoming supply chain issues affecting re-
agents, other consumables and disposables, along with
staffing and equipment issues highlighted the impor-
tance of robust laboratory services as well as the ingenu-
ity and creativity of laboratorians to meet those
challenges head on. Polymerase chain reaction became
a household term and the gold standard for viral detec-
tion. The laboratory-developed test in several varieties
once again became the go-to assay that saved the day.
From diagnostic testing through screening and surveil-
lance testing and ultimately viral sequencing to detect
variant strains of SARS-CoV-2, our laboratories deliv-
ered on the unmet and uncertain needs of providers
and patients globally. At the time of this writing, coun-
tries have ramped up efforts to vaccinate individuals
with one of several available vaccines, and in the United
States, numbers of new cases and deaths due to COVID-
19 have significantly subsided. Globally, the virus con-
tinues to be a major cause of morbidity and mortality in
numerous countries that have had delayed vaccination
responses, and the potential resurgence of COVID-19
cases in those younger individuals that have yet to be
vaccinated remains a threat. Our hope is that continued
vaccination and mitigation strategies will end this
pandemic if we remain vigilant and a new sense of
“normalcy” will prevail.
In this fourth issue of Advances in Molecular Pathology, we
include another special section on COVID-19 that high-
lights experiences from a laboratory perspective, sero-
logic testing, and genomic surveillance of variants.
Our colleagues and authors found the time to shed light
on some of the more interesting developments in the
field of molecular pathology despite the burden that
the pandemic has taken on all of us. Clinical genomics
is not a passing fad as some had predicted; it is here to
stay, and our stewardship of the testing on the analytical
and interpretative sides remains critical to patient care.
In this issue, we review advances in the field of molecular pathology with regards to developments in
genetic disease, hematologic disease, infectious disease,
pharmacogenomics, solid tumors, and informatics.
Several articles present novel technologies, such as
optimal genome mapping, point-of-care diagnostics,
and artificial intelligence. Operationalizing genomic
medicine in a clinical setting and assessing
minimal residual disease, cell-free nucleic acids,
and tumor mutation burden are discussed as impactful
strategies in the management of the patient with cancer.
Finally, germline variants, nutrigenomics, and hyper-
tension are presented as new applications of
pharmacogenomics.
I am grateful to those friends and colleagues who
once again during the most pressing of times agreed
to become section editors and authors of the fantastic
articles presented here.
Happy reading!
Gregory J. Tsongalis, PhD, HCLD
Department of Pathology and
Laboratory Medicine
Dartmouth Hitchcock Medical Center
1 Medical Center Drive
Lebanon, NH 03756, USA