Blog Archives

Clinical evidence and implementation challenges for pharmacogenomic testing

September 18, 2019 – This post is an edited version of parts of a paper that appeared in the Journal of Personalised Medicine (JPM) a week ago und which addresses one of the important topics in connection with the themes of personalised medicine,

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Genomics lab illegally markets genetic tests that claim to predict patient responses to drugs

April 07, 2019 – Consumers are increasingly embracing genetic testing to better understand their individual risk for developing diseases. With this rise in popularity and availability, we’re also seeing significant activity in the field of pharmacogenetics, which is the process of understanding what, if any, role genetics plays in a patient’s reaction to particular drugs,

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Direct Oral Anticoagulants (DOAC): Newly Identified Genes and Genetic Variants

January 26, 2019 – Pharmacogenomic approaches are increasingly revealing newly identified genes and genetic variants that are at the base of remarkable inter-individual pharmacokinetic and pharmacodynamic variation of novel direct oral anticoagulants (DOAC).

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Living theragenomic medicine: Direct to consumer test for metabolism of drugs FDA approved

November 08, 2018 –  The American Food and Drug Administration (FDA) has just authorized the first direct-to-consumer test for detecting genetic variants in genes that may govern the metabolism of drugs in individual patients.

Thus, FDA permits marketing, with special controls,

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Development of a patient education video about pharmacogenetics

June 16, 2017 – Patient education in pharmacogenetics, the central component of theragenomic and personalized medicine and individualized drug safety is an important issue. Not only needs the individual patient to understand what pharmacogenetics, or more precisely, pharmacogenetic testing can do for him in the process of

selection of the “right”

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Eteplirsen (Exondys 51) for Duchenne Muscular Dystrophy (DMD) approved

September 19, 2016 – This post presents below a virtually unedited announcement by the American Food & Drug Administration (FDA) concerning Duchenne Muscular Dystrophy (DMD) therapy  option which gives much hope for at least some of the affected patients.

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Actionable pharmacogenetic markers for prediction and prognosis in breast cancer

Sacco K, Grech G

EPMA J 2015;6(1):15

PMID: 26203310

Abstract

Breast cancer is a heterogeneous disease that necessitates proper patient classification to direct surgery, pharmacotherapy, and radiotherapy. Despite patients within the same subgroup receiving similar pharmacotherapy, substantial variation in clinical outcomes is observed.

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Precision Medicine Initiative: draft guidances issued

July 9, 2016 – This is a huge step into the future of theragenomic and personalized medicine and individualized drug safety. In support of the President’s Precision Medicine Initiative (PMI), the American Food & Drug Administration (FDA) just issued two draft guidances that,

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Osimertinib (Tagrissa) approved for non-smal cell lung cancer (NSCLC) patient subgroup carrying the EGFR T790M mutation

February 07, 2016 – The European Commission has approved once-daily Osimertinib (Tagrissa) for the treatment of patients with locally advanced or metastatic non-small-cell lung cancer (NSCLC) that is positive for the epidermal growth-factor receptor (EGFR) T790M mutation. This follows a positive review in December 2015.

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Genetic Variants Predict Lithium Response in Bipolar Disorder

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  • Metabolomics meets genomics to improve patient diagnosis July 7, 2020
    A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years. Having an accurate diagnosis also means that maybe there is a treatment that at least can alleviate the patient's condition.
  • Researchers develop new approach to study the genetics of human disease July 7, 2020
    Many heritable immune diseases such as rheumatoid arthritis and blood-cell related traits derive from critical proteins not being made or not functioning correctly. But exactly how a person's genes, the regulation of these genes and how the resulting proteins interact to cause disease is not widely understood.
  • Common inherited genetic variant identified as frequent cause of deafness in adults July 6, 2020
    A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics.
  • Rsearchers create an analytic tool that opens a new frontier of cancer discovery July 6, 2020
    Gene coding regions constitute 2% of the human genome. St. Jude Children's Research Hospital scientists have developed a computational tool to identify alterations that drive tumor formation in the remaining 98% of the genome. The method will aid discovery of oncogenes and advances in precision medicine for children and adults with cancer.
  • Discovery of new disease-susceptibility gene for steroid-sensitive nephrotic syndrome July 3, 2020
    An international research collaboration, including Professor Iijima Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. The NPHS1 gene encodes nephrin, a component protein for the renal glomerulus slit diaphragm, which prevents protein from being passed […]
  • Hearing and visual impairments linked to elevated dementia risk July 8, 2020
    Older adults with both hearing and visual impairments--or dual sensory impairment--had a significantly higher risk for dementia in a recent study published in Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring.
  • Certain jobs linked to higher risk of knee osteoarthritis July 8, 2020
    Workers in jobs that typically involve heavy lifting, frequent climbing, prolonged kneeling, squatting, and standing face an increased risk of developing knee osteoarthritis. That's the conclusion of a new analysis published in Arthritis Care & Research.
  • Bacteria in infants' first stool may indicate their risk of obesity July 8, 2020
    Meconium--the earliest stool of an infant -- is composed of materials ingested during the time the infant spends in the uterus. A new study published in Pediatric Obesity found that the types of normal bacteria found in the meconium may predict an infant's likelihood of later developing obesity.
  • New trial results question standard treatment plan for rheumatoid arthritis July 8, 2020
    In a clinical trial of patients with rheumatoid arthritis, treatment with a drug called upadacitinib provided greater benefits than methotrexate, the most commonly used initial therapy for rheumatoid arthritis.
  • Early clinical trial tests treatment strategy for pancreatic cancer July 8, 2020
    Pancreatic cancer carries a poor prognosis, and it often goes undetected until advanced stages. A new BJS (British Journal of Surgery) study indicates that a certain cocktail of chemotherapy drugs may be a safe and effective treatment option for patients with a metastatic form of the disease.
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