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Journal of Personalized Medicine, Volume 9, Issue 3

2019 September - 13 articles

Cover Story: Pharmacogenetics and biomarkers are becoming normalised as important technologies to improve drug efficacy rates, reduce the incidence of adverse drug reactions, and make informed choices for targeted therapies. However, their wider clinical implementation has been limited by a lack of robust evidence. Suitable evidence is required before a biomarker’s clinical use, and also before its use in a clinical trial. We have undertaken a review of five pharmacogenetic biomarker-guided randomised controlled trials (RCTs) and evaluated the evidence used by these trials to justify biomarker inclusion. Very different levels of evidence were provided by the trials. We used these observations to write recommendations for future justifications of biomarker use in RCTs and encourage regulatory authorities to write clear guidelines. View this paper.
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Articles (13)

  • Perspective
  • Open Access
10 Citations
6,873 Views
10 Pages

12 September 2019

Cancer is a leading cause of death worldwide and therefore one of the most important public health concerns. In this contribution, we discuss recent key enabling technological innovations (and their challenges), including biomarker-based technologies...

  • Review
  • Open Access
18 Citations
7,873 Views
17 Pages

Precision Oncology—The Quest for Evidence

  • Theodoros G. Soldatos,
  • Sajo Kaduthanam and
  • David B. Jackson

5 September 2019

The molecular characterization of patient tumors provides a rational and highly promising approach for guiding oncologists in treatment decision-making. Notwithstanding, genomic medicine still remains in its infancy, with innovators and early adopter...

  • Review
  • Open Access
3 Citations
7,981 Views
19 Pages

Evidence to Support Inclusion of Pharmacogenetic Biomarkers in Randomised Controlled Trials

  • Danielle Johnson,
  • Dyfrig Hughes,
  • Munir Pirmohamed and
  • Andrea Jorgensen

1 September 2019

Pharmacogenetics and biomarkers are becoming normalised as important technologies to improve drug efficacy rates, reduce the incidence of adverse drug reactions, and make informed choices for targeted therapies. However, their wider clinical implemen...

  • Case Report
  • Open Access
11 Citations
7,357 Views
16 Pages

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

  • Ekaterina Y. Ilyechova,
  • Irina V. Miliukhina,
  • Marina N. Karpenko,
  • Iurii A. Orlov,
  • Ludmila V. Puchkova and
  • Sergey A. Samsonov

17 August 2019

In this paper, we report a clinically proven case of Parkinson’s disease (PD) with early onset in a patient who is a heterozygous mutation carrier of ATP7B (the Wilson’s disease gene). The patient was observed from 2011 to 2018 in the Cen...

  • Review
  • Open Access
96 Citations
17,109 Views
25 Pages

Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events. As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is...

  • Editorial
  • Open Access
17 Citations
7,363 Views
6 Pages

This article aims to discuss the recent development of integrated point-of-care spectroscopic-based technologies that are paving the way for the next generation of diagnostic monitoring technologies in personalized medicine. Focusing on the nuclear m...

  • Article
  • Open Access
6 Citations
6,767 Views
18 Pages

For more than a decade, genome-wide association studies have been making steady progress in discovering the causal gene variants that contribute to late-onset human diseases. Polygenic late-onset diseases in an aging population display a risk allele...

  • Review
  • Open Access
8 Citations
6,924 Views
9 Pages

Clinical Applications of Circulating Tumour DNA in Pancreatic Adenocarcinoma

  • Matthew Loft,
  • Belinda Lee,
  • Jeanne Tie and
  • Peter Gibbs

Pancreatic adenocarcinoma remains one of the most aggressive cancers with an ongoing dismal survival rate despite some recent advances in treatment options. This is largely due to the typically late presentation and limited effective therapeutic opti...

  • Article
  • Open Access
32 Citations
10,922 Views
9 Pages

Determination of Risk Factors for Venous Thromboembolism by an Adapted Caprini Scoring System in Surgical Patients

  • Bui My Hanh,
  • Le Quang Cuong,
  • Nguyen Truong Son,
  • Duong Tuan Duc,
  • Tran Tien Hung,
  • Duong Duc Hung,
  • Tran Binh Giang,
  • Nguyen Hoang Hiep,
  • Hoang Thi Hong Xuyen and
  • Dinh-Toi Chu
  • + 1 author

Venous thromboembolism (VTE) is a frequent preventable complication among surgical patients. Precise risk assessment is a necessary step for providing appropriate thromboprophylaxis and reducing mortality as well as morbidity caused by VTE. We carrie...

  • Review
  • Open Access
56 Citations
12,494 Views
21 Pages

Blockchains for Secure Digitized Medicine

  • Khaled Shuaib,
  • Heba Saleous,
  • Karim Shuaib and
  • Nazar Zaki

Blockchain as an emerging technology has been gaining in popularity, with more possible applications to utilize the technology in the near future. With the offer of a decentralized, distributed environment without the need for a third trusted party (...

  • Case Report
  • Open Access
3 Citations
7,824 Views
11 Pages

Adaptive, Iterative, Long-Term Personalized Therapy Management in a Case of Stage IV Refractory NSCLC

  • Anantbhushan Ranade,
  • Darshana Patil,
  • Amit Bhatt,
  • Rucha Dhasare,
  • Vineet Datta,
  • Rajan Datar and
  • Dadasaheb Akolkar

In this paper we report long-term therapy management based on iterative de novo molecular and cellular analysis in a case of metastatic non-small cell lung cancer (NSCLC), with prior history of treated colorectal cancer. In the described case tempora...

  • Review
  • Open Access
31 Citations
9,542 Views
13 Pages

Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review

  • Rachele M. Hendricks-Sturrup,
  • Kathleen M. Mazor,
  • Amy C. Sturm and
  • Christine Y. Lu

Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 6...

  • Article
  • Open Access
43 Citations
10,390 Views
12 Pages

The expansion of genetic and genomic testing across medical specialties and the changing workforce demographics of certified genetic counselors (CGCs) have led to concerns of a workforce shortage. We assessed the number of genetic counselors working...

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J. Pers. Med. - ISSN 2075-4426