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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. A decidedly contentious area in genomics is the patient’s ‘right not to know’.

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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

For more information on tackling this “genomic analysis bottleneck,” watch this on-demand webinar. HS: Due to the heterogeneity of the rare disease population, there are many relevant gene lists, and the genomic data analysis of these patients covers almost 2,000 different genetic targets.

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8 Frequently Asked Questions About Genetic Testing in Clinical Trials

Worldwide Clinical Trials

genotyping for known variants vs sequencing only vs sequencing and concurrent deletion/duplication analysis), and whether the interpretation of the genetic testing results may have changed over time. Why is the turnaround time for whole-genome sequencing and whole-exome sequencing (WES/WGS) longer than a single-gene or panel test?

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Nutrigenomics: The Future of Personalized Nutrition

Roots Analysis

Nutrigenomics is the science studying the relationship between human genome, nutrition and health. In part, the success of the Human Genome Project has also paved a path for the novel concept of nutrigenomics. It further highlights the variation in the genome of patients and identify the sites of metabolic weakness.

Genome 40
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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

The cost of testing per human genome in 2006 was approximately $14 million , and in less than two decades, an average consumer-purchased genetic test costs $100. The same is becoming true for the healthcare industry, and one of the first major breakthroughs in the area was the 100,000 Genomes Project.

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Why Proviral DNA Drug Resistance Testing is Useful in Guiding Treatment Decisions for HIV-1 Patients

XTalks

However, the variant viral genomes will still persist in the latent reservoir as provirus and can be detected with proviral DNA testing. Importantly, ARV treatment does not affect the proviral DNA genome that persists in latently infected cells. Proviral DNA Genotyping. GenoSure Archive.

DNA 97
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Biorepositories as a Guiding Resource for Research & Drug Discovery

XTalks

The power of leveraging clinical data to decipher disease mechanisms and fuel drug discovery has rapidly grown in the era of genomics and personalized medicine. Genuity Science focuses on population genomics as a tool to derive novel biological insights through partnerships with industry-leading pharmaceutical and biotech companies.