The current and future impact of genome-wide sequencing on fetal precision medicine

Sabbagh, Riwa; Veyver, Ignatia B. Van den

doi:10.1007/s00439-019-02088-4

Cited by 25 publications

(21 citation statements)

References 65 publications

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“…The convergence of high-throughput sequencing technologies with advances in computation and data science has given sequencing a growing role in clinical diagnosis. Examples of high-throughput sequencing applications that have begun to enter the clinic in recent years include cancer-gene sequencing to identify clinically actionable mutations and whole-genome and metagenomic sequencing to resolve medical mysteries (1)(2)(3)(4). The main appeal of sequencing as a diagnostic modality is its potential to detect all of the possible variants of a given gene or genes in a single test.…”

Section: Introductionmentioning

confidence: 99%

The Future of Blood Testing Is the Immunome

Arnaout

Prak

Schwab³

et al. 2021

Front. Immunol.

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It is increasingly clear that an extraordinarily diverse range of clinically important conditions—including infections, vaccinations, autoimmune diseases, transplants, transfusion reactions, aging, and cancers—leave telltale signatures in the millions of V(D)J-rearranged antibody and T cell receptor [TR per the Human Genome Organization (HUGO) nomenclature but more commonly known as TCR] genes collectively expressed by a person’s B cells (antibodies) and T cells. We refer to these as the immunome. Because of its diversity and complexity, the immunome provides singular opportunities for advancing personalized medicine by serving as the substrate for a highly multiplexed, near-universal blood test. Here we discuss some of these opportunities, the current state of immunome-based diagnostics, and highlight some of the challenges involved. We conclude with a call to clinicians, researchers, and others to join efforts with the Adaptive Immune Receptor Repertoire Community (AIRR-C) to realize the diagnostic potential of the immunome.

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Section: Introductionmentioning

confidence: 99%

The Future of Blood Testing Is the Immunome

Arnaout

Prak

Schwab³

et al. 2021

Front. Immunol.

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“…Contemporary genetic analysis involves cytogenetic and microarray analysis as well as next generation sequencing (NGS) [47,48]. In general, the indication for the diagnostic test determines the genetic analysis.…”

Section: Timingmentioning

confidence: 99%

“…Aktuelle genetische Untersuchungen umfassen zytogenetische und Microarray-Analysenverfahren sowie Next-Generation-Sequencing Technologien (NGS) [47,48]…”

Section: Zeitnahe Abklärungunclassified

Ten reasons why we should not abandon a detailed first trimester anomaly scan

Kagan

Tercanli²,

Hoopmann

2021

Ultraschall Med

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“…Genetic testing in pregnancy dates back to the 1950s with the introduction of amniocentesis, initially for determination of fetal gender and Rh status, and by the 1960s for diagnosis of Down syndrome (Sabbagh and Van den Veyver 2019). Testing evolved to include diagnostic tools available earlier in pregnancy (i.e., chorionic villus sampling (CVS) in the 1st trimester in the 1980s), and non-invasive serum screening (late 1980s through 2000 with the number of serum markers screened and gestational age at testing improving screening performance).…”

mentioning

confidence: 99%

“…While karyotype was the standard genetic test used for prenatal diagnosis for decades, chromosomal microarray became first line in 2012 due to its enhanced ability to detect microdeletions and duplications beyond the resolution of standard karyotype (Wapner et al 2012). In the last decade, the introduction of massively parallel sequencing technology [i.e., next-generation sequencing (NGS)] has allowed for an accelerated course of new test development affecting the spectrum of pregnancy care, ranging from expanded carrier screening (ECS) to cell-free DNA screening (i.e., non-invasive prenatal testing (NIPT)) for fetal aneuploidy to sequencing of fetal genomes for diagnostic testing (Sabbagh and Van den Veyver 2019).…”

mentioning

confidence: 99%