Balancing Privacy and Progress: Biobanks and Genome Sequencing

Genome sequencing coupled with medical and personal data holds enormous promise for unraveling the mysteries of the human body and advancing disease treatment. Increasingly, research projects are collecting data on large numbers of people to determine links among diseases, lifestyle, environment, and genes. The biobanks being created with these data raise questions about protecting the privacy of individuals whose DNA and medical records fuel research. Repositories of human genetic material emerged more than a decade ago in Iceland with the company deCODE genetics. The United Kingdom has created a biobank with 500,000 enrolled volunteers. In the United States, researchers at Kaiser Permanente have revealed early findings based on a treasure trove of genetic and medical data collected from 100,000 Californians. This effort, establishing perhaps the largest biobank in the United States, has already shown new links between disease traits and genetic variants. "One of the things that is becoming obvious is that genomes are far more variable from individual to individual than we thought even 5 years ago," said Joshua Meyer, a postdoctoral researcher at Oregon Health and Science University, where he works on chromosomal rearrangements with potential applications in cancer research. "Mapping those variations is really important if we are going to realize the medical dream of personal genomics." The emergence of low-cost genome sequencing is opening doors acros...
Source: Washington Watch - Category: Biology Authors: Source Type: news

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Publication date: 15 February 2021Source: Journal of Hazardous Materials, Volume 404, Part BAuthor(s): Yanhua Liu, Yang Li, Shanshan Dong, Lu Han, Ruixin Guo, Yourong Fu, Shenghu Zhang, Jianqiu Chen
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
Authors: Musio F Abstract INTRODUCTION: Anemia has and will continue to be a central theme in medicine particularly as clinicians are treating a burgeoning population of complex multi-organ system processes. As a result of multiple randomized controlled trials (RCTs), meta-analyses, and societal recommendations overly restrictive paradigms and under-administration of erythropoiesis stimulating agents (ESAs) have likely been followed by clinicians among all specialties. AREAS COVERED: A review of anemia in the context of chronic kidney disease, hematologic malignancies and cancer is presented with focus on the e...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Publication date: January 2021Source: Urology Case Reports, Volume 34Author(s): Nina Al-Saadi, Safa Al-Musawi, Yousuf Khan, Daben Dawam
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Authors: Matti B, Zargar-Shoshtari K Abstract Prostate cancer represents a significant health burden worldwide. The cancer incidence had substantially increased since the introduction of prostate specific antigen (PSA) in cancer screening. This had led to considerable debates among health professionals and epidemiologists, since PSA as a screening tool seemed to be far from perfect. In New Zealand, the controversy was quite prominent in the last three decades, with some advocating the benefits of screening, while others concerned regarding the risk of harms. With the absence of an organised screening programme and ...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand. PMID: 33032302 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Authors: Zarrabi A, Mark S PMID: 33032299 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Authors: Peng C, Cohen DJ Abstract INTRODUCTION: Esophageal squamous cancer remains an important cause of mortality worldwide with two new immunotherapy drugs recently approved for metastatic disease. AREAS COVERED: The authors review the epidemiology and genomics of esophageal squamous cell carcinoma. They also examine prior trials involving targeted agents under investigation as well immunotherapies that have been approved and novel combinations. EXPERT OPINION: Great advances have been made in characterizing the molecular changes in esophageal carcinoma. However, relatively few drugs have shown benefit i...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
This article summarizes the rationale for, and development of CDK inhibitors in melanoma, with their evolution from pan-CDK inhibitors to highly specific agents, throughout clinical trials and finally their potential future use. EXPERT OPINION: Whilst CDK inhibitors have been practice changing in breast cancer management, their efficacy is yet to be proven in melanoma. Combination with BRAF/MEK inhibitors has been hindered by dose-limiting toxicities, but their role may yet to be found within the spectrum of biomarker-derived personalized melanoma management. The effect that CDK inhibitors can have as an adjunct to imm...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
CONCLUSIONS: The cfDNA level in the CSF can be used as a supplemental marker for diagnosing LMS in hematologic malignancy patients. PMID: 33029963 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
In conclusion, the presence of anti-SOX1 abs alone is a potential predictor of an uncommon paraneoplastic neurological disorder, usually occurring in the setting of LEMS, PCD, and SCLC. The detection of anti-SOX1 abs contributes to an early diagnosis of underlying tumors, given the diversity of clinical symptoms and the absence of characteristic neuroimaging features. PMID: 33029958 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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