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Doctors

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  • Mandate exemptions doctors’ guide

    23/01/2022
    Posted by:

    Dr.M.Raszek


    There is a small unvaccinated minority of people who already have to contend with certain added health difficulties on account of their existing health problems. Here we propose some exemption criteria that should be strongly considered in specific situations expressed to doctors by patients expressing their understandable fear of the risks of accidentally worsening their already existing disabilities by unusual vaccine adverse event.


  • Improving Diagnostic Rates of Genetic Testing - ASHG 2021 Highlights in Clinical Genomics

    12/01/2022
    Posted by:

    K.Shinde and N.Wynne


    The field of medicine is working hard to keep up with advances in genome sequencing technologies but remains far behind due to difficulty in implementing some of the new, unfamiliar, and expensive protocols. Here we have focused on recent research and developments in clinical genomics, intending to highlight some of the progress being made towards optimization and large-scale implementation of genome sequencing in clinical settings.


  • Supernumerary marker chromosomes – what they are, frequency and implications in newborns

    25/11/2021
    Posted by:

    Dr.M.Raszek


    This post is about possible unusual findings in a human genome of a presence of what is referred to as supernumerary marker chromosome - an independent fragment of a chromosome derived from any of our naturally occurring chromosomes. In essence, a person ends up having an additional tiny chromosome, and the clinical consequences of this can be quite varied.


  • Big themes in medical genomics - ASHG2021 overview

    18/11/2021
    Posted by:

    Dr.M.Raszek


    In this post we summarize what Merogenomics perceived as the biggest themes in current medical genomics from the the latest conference put on by the American Society of Human Genetics. We also mention what themes are emerging, what is the usual information and what did not get as much attention as we might have expected.


  • Genes with medical intervention – ACMG v.3.0 guidelines

    27/10/2021
    Posted by:

    Dr.M.Raszek


    This list of genes is extremely valuable for any doctor dealing with medical genomics as it consists of genes not only vetted for their association to a condition, but these are also genes where a medical actionability is available to the doctors. In this context, actionability refers to available medical intervention as defined by current standards of care.


  • Mental health and pharmacogenetic DNA testing

    11/08/2021
    Posted by:

    Dr.M.Raszek


    This post is a dramatic recounting of a mental health patient who used clinical pharmacogenetic DNA testing to improve their situation. This story has turned out to surpass our expectations in how much this individual was helped! Not only were we able to identify that a medication this person was on had an important personal use warning based on that patient’s genetics, but also another massive change took place for the benefit of this patient afterwards.


  • Pharmacogenetics evidence levels

    17/07/2021
    Posted by:

    Dr.M.Raszek


    Pharmacogenetics/pharmacogenomics is the study of how our genes impact the medications we take. Each one of us is programmed by having a variety of different mutations in our genes that influence how medications are processed by our body, and this information can be collected and then examined to help determine how medications should be dosed to best match how we metabolize (break down within our body) the medications we use, or even help avoid taking medication altogether because it could be toxic to us. Here we describe how the levels of evidence for pharmacogenetics are established.


  • Top list of patient signs for doctors to use DNA testing

    09/06/2021
    Posted by:

    Dr.M.Raszek


    This post is to inform doctors who are starting to realize the value of medical DNA testing and to inform them about the best indications that DNA testing should be strongly considered. DNA tests are selected for patients as a possibility to obtain a clearer clinical picture.


  • Clinical DNA testing options selection guide

    24/04/2021
    Posted by:

    Dr.M.Raszek


    This post explains the different DNA testing options available to patients/consumers who seek to discover potential genetic causes of an already existing condition. The testing also applies to a person who wants to screen before any clinical symptoms of a condition become apparent.


  • Autism spectrum disorders and DNA testing

    22/11/2020
    Posted by:

    Dr.M.Raszek


    Everyone knows how the incidence of autism has been on a constant rise over the years (currently approximately one in 54 children in the US and one in 66 in Canada). But what is not broadly understood in the general public is that genetics play a massive contribution in autism spectrum disorders. In turn, it is also not widely known that identifying the genetic factors in an affected autistic individual can help to more specifically discriminate the condition.


  • What is genetic mosaicism?

    14/09/2020
    Posted by:

    Dr.M.Raszek


    In this post we will discuss what might seem like an obscure topic but is a very real-life issue: being composed of more than one genome. Or in other words, situations where an individual carries two different types of genetic information in the cells of their body. This is especially significant for those who are interested in prenatal DNA testing.


  • Pharmacogenetics DNA test best use

    31/08/2020
    Posted by:

    Dr.M.Raszek


    Traditionally medicines have been developed to target entire populations. However, patient’s individual biological influences can dramatically shift drug effectiveness in comparison to just the population average. For this reason medication efficacy can actually be astonishingly low for any given person - far lower than people probably realize. We now have the means to start probing this information of how to properly match medications to an individual. It is based on a person’s genetics especially the specific mutations in a person’s DNA code that can result in differences in how we biologically react to a specific medication. This is referred to as pharmacogenetics.


  • Variants of Unknown Significance (VUS) – doctors beware!

    26/07/2020
    Posted by:

    Dr.M.Raszek


    We start with the story of a cancer survivor who just recently completed an advanced DNA/RNA sequencing combo test for cancer predisposition; it was not only the very first time this test was used in Canada, it was the first time it was used anywhere in the world outside of US. This test is so new that we were a little bit jealous that the patient would end up seeing the DNA testing kit even before Merogenomics had the chance to analyze one!


  • DNA testing for cancer patients

    13/07/2020
    Posted by:

    Dr.M.Raszek


    Last month we published a post on DNA testing for cancer predisposition and had an accompanying video on the types of DNA tests that are available for those people either afflicted with cancer or that have a family history of cancer. This month we wanted to focus on those tests available to cancer patients, as mentioned in our video. We’ll start by explaining how cancer patients can benefit from DNA testing.


  • Cancer predisposition DNA testing options

    08/06/2020
    Posted by:

    Dr.M.Raszek


    This article is for anyone who is interested in learning about their potential genetic cancer predisposition that might have contributed to the onset of an existing or prior condition, or for those who have not developed cancer yet, but are worried they might be predisposed due to family history, and what DNA testing options might be available to them.


  • Benefits of clinics using medical DNA testing

    25/05/2020
    Posted by:

    Dr.M.Raszek


    There are many reasons why medical clinics should considering adopting DNA testing to benefit their patients. The vast majority of doctors are already aware that DNA testing has had a huge impact in helping patients. But the problem is that many doctors are not familiar enough with this technology and how to best implement it in their practice. Here are the top benefits to consider in overcoming these barriers.


  • Alberta Health Services genetic testing 2019 overview

    06/11/2019
    Posted by:

    Dr.M.Raszek


    The world of genetics and genomics is vast both in private access to medical genetics as well as public. But how vast is it here in Alberta? We catalogued all of the different tests available in the Alberta Health Care Genetics and Genomics program.


  • Birth defects

    10/10/2019
    Posted by:

    J.Phillips


    Birth defects are disabilities and disorders that are present in an infant from the time of their birth. They affect approximately 1 in 25 newborns each year. 1 in 5 newborn deaths result from birth defects primarily due to defects of the heart, lungs, brain, and contribution of genetics. Since birth defects have such a profound impact on both the lives of families and society as a whole, it makes sense that a lot of effort is focused on treatment and prevention.


  • Childbirth pharmacogenetics

    09/09/2019
    Posted by:

    Dr.M.Raszek


    Part of modern medicine’s benefit in the childbirth process is the array of medications available to a mother during labour (depending on her requirements). A client of Merogenomics who has undergone full genome sequencing, later became pregnant and wondered if her collected DNA data could be used in relation to any medications that might be provided to her during the childbirth process. In other words, is there any evidence that person’s DNA could be used to specifically personalize prescriptions and the dosing of drugs used during childbirth?


  • 23andMe health reports - how accurate are they? 23andMe review part 2

    29/08/2019
    Posted by:

    Dr.M.Raszek


    This is a second article of two dedicated to reviewing 23andMe DNA based health reports. We continue the 23andMe review with what impresses us about their process, what does not, and where should medical doctors stand when it comes to 23andMe results.


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