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  • Genome DNA testing in healthy people – what can you find?

    01 / 09 / 2018
    Posted by:

    Dr.M.Raszek


    Very little scientific data has come out to assess the utility of genome sequencing in healthy people. While thousands upon thousands of papers have been published on the use of DNA tests in helping to diagnose conditions in order to help manage existing health problems in the population, very little attention has been paid to healthy people sequencing their genomes, despite the fact that thousands of people have already done so.


  • Superhero versus disease genetics – what are your odds?

    18 / 08 / 2018
    Posted by:

    Dr.M.Raszek


    One major question one could (or should?), be asking themselves is, “what are the odds that if I sequence my genome I will find a health risk result?” Or in other words, a result that shows that a person harbours a pathogenic variant that is indicative of disease development. This is still a huge source of contention, and science is continuously pouring in to determine what mutations can truly be associated with disease, as well as how frequently such incidental findings about a threat to your health actually do occur in a population. As more humans have their genomes sequenced, some repetitive patterns begin to emerge.


  • Genome editing enters a new phase

    01 / 08 / 2018
    Posted by:

    Dr.M.Raszek


    The world of genome editing is heating up. Since its invention in 2012 of the targeted Cas9 gene editing system, the procedure has garnered massive funding and attention, and it is no wonder, as the potential medical implications are obvious. Quietly in the background, human embryo experiments are already occurring, setting the stage for what might be expected in the near future.


  • Personalized medicine – is it yet real?

    14 / 07 / 2018
    Posted by:

    Dr.M.Raszek


    Personalized medicine: you have to admit these words have a very good ring to them. It is probably what everyone thinks they are getting whenever dealing with a doctor, although the reality often falls short of that. While obviously every doctor will treat each patient with an individual approach based on their past history, it is not easy or cheap to dish out diagnostic testing to collect personal medical data to manage treatment. Therefore the amount of such testing will be governed by the amount of money available to pay for such tests for everybody. However, personalized medicine has a more defined niche.


  • Epizyme company in search of the first ever epigenetic cancer therapy

    28 / 06 / 2018
    Posted by:

    Dr.M.Raszek


    Tazemetostat is a drug for patients with specific genetically-defined tumors. This is how the future of both clinical trials and personalized targeted therapy is going to be defined. Well, perhaps more accurately, that future had arrived a long time ago, it is just that unfortunately not many oncologists are yet aware of or know how to apply such medications. But everything requires its time to mature, and eventually all of our oncologists will be sequencing patient cancer DNA without a second thought.


  • The Gene by Siddhartha Mukherjee

    11 / 06 / 2018
    Posted by:

    M.Mulligan


    DNA, the history of its discovery, and our ability to manipulate it, are the subjects of Mukherjee’s latest book, The Gene. The story of the gene is a journey across time and scale. Mukherjee eloquently animates the intertwining strands of history and science to demystify the gene and its discovery. He shows the idea of the gene proved to be elusive and counterintuitive to early thinkers. Its discovery was both “dangerous and exhilarating.” Unravel the language of our genome, and you discover inherent limitations of its perfectibility. Mukherjee manages to bridge conceptual gaps in our understanding of our own source code, and situate the reader in debates on the frontier of biology.


  • Is the future of patient cancer treatment in trouble?

    25 / 05 / 2018
    Posted by:

    Dr.M.Raszek


    While we are facing an ever increasing number of cancer patients to deal with, the corresponding number of oncologists to meet these needs are not increasing at the same rate. One scientific study that investigated the problem concluded that by 2025 the need for oncologist services will increase by 40% in the US (accounting for more than 83 million visits with cancer specialists), but the number of oncologists to meet these demands will increase only by 25%.On top of that, another study stated that half of the American practicing oncologists could be retiring by 2020. So we are faced with a very serious situation of a shortage of oncologists in the near future, which very likely will negatively impact cancer patient quality care, and exhaust our oncologists.


  • Clinical utility of your genome

    10 / 05 / 2018
    Posted by:

    Dr.M.Raszek


    One of the most frequently-used arguments against direct-to-consumer or direct-to-provider (as in a doctor acting on a consumer’s behalf), DNA sequencing tests is the much-touted lack of the demonstrated clinical utility of such tests. I always somewhat scoffed at this argument, because I saw it as a form of a “chicken-and-egg” type of situation. I obviously agree that consumers need to be protected, and not sold bogus tests that do not provide any benefit. However, on an individual basis, the clinical utility of extensive DNA sequencing tests has been demonstrated copious number of times. But it is true that it has not been demonstrated on a population scale. The good news is that scientific data has been trickling in.


  • Is there a justifiable need for diseases to exist?

    30 / 04 / 2018
    Posted by:

    Dr.M.Raszek


    If mutagenesis is required for the survival of the species, and diseases that are found in the population arise due to such mutagenic events, then could disease prevalence in the population be a sign of a species’ ability to adapt to a changing world? For the survival of a species, a certain threshold level of mutagenesis is needed. Beyond this threshold, if mutagenesis were to be too frequent, the resulting level of diseases could endanger the species by overwhelming its capacity to successfully thrive and reproduce. If the mutagenesis level is far below such a threshold, then it endangers the survival of the species by leading to species DNA that is not versatile. The lack of such versatility could expose the species to rapid eradication because not enough members would be adapted to a completely new environment in order to ensure its ability to thrive. Think of dinosaurs. Or any currently endangered species that has a very low number of individuals. A simple virus infection could wipe such a species out of existence at this point.


  • Cost of cancer treatment - what does it take to beat it?

    16 / 04 / 2018
    Posted by:

    Dr.M.Raszek


    Cancer is specific to each person, in theory no cancer is ever the same, and the molecular profile that drives the cancer development can respond to a specific therapy targeted to those specific broken molecular pathways. Dozens of drug options are now available to specific cancer mutations, paving the way towards the concept of personalized medicine, therapy tailored specifically to each patient’s needs. This is one of the greatest outcomes of the Human Genome Project.


  • Pesky common diseases have pesky genetic roots

    31 / 03 / 2018
    Posted by:

    Dr.M.Raszek


    The complex traits you inherit exist due to a confluence of many different genes and other areas of your genome, dozens, or even hundreds, of different tiny or big variations dispersed throughout people's genomes. To give you some familiar examples, coronary heart disease, type 2 diabetes, hypertension, and obesity fall into this category. Another famous one is diabetes. As well as many cancers. The underlying genomic architecture behind these problems is so convoluted, that how these genome variations come together to produce the final outcome is just a mystery. So they have not entered the stage of clinical action, but as time goes by, it is expected that one day they will. Which is exciting because a sequenced genome is a genome that keeps on giving!


  • What can go wrong with your NIPT

    12 / 03 / 2018
    Posted by:

    Dr.M.Raszek


    Nothing is ever as simple as it may first seem, and NIPT is no exception. Important work has come out highlighting some of the reasons that might lead to false results in an NIPT test, and they are fascinating. In essence, it is the fact that the majority of NIPT tests do not test for altered numbers of all chromosomes, which can mess up the results. The vast majority of NIPT tests look only for problems encountered with chromosomes 21 (resulting in Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome), as well as the sex chromosomes. That's for a good reason, as these are the most common unbalanced chromosome counts (termed “aneuploidies”), and adding extra chromosomes into the test reduces the overall power of the test detection as compared to testing for only chromosome 21 levels (the most commonly encountered problem).


  • Are you the type of person who would hunt for rare treasure?

    28 / 02 / 2018
    Posted by:

    T.Browning and Dr.M.Raszek


    What makes a person rare? By our definition, it is a limited quantity of people, who are deemed unusually good. A rare person is someone different than the “typical” population. The rarest people then, would be those with a rare condition. Would we say they are unusually good? Are they held in high esteem? Do they receive a place of honor? I think you know the answer.


  • Alternative medicine and cancer - warnings to heed

    09 / 02 / 2018
    Posted by:

    Dr.M.Raszek


    We don’t have much empirical data on the comparison effect between alternative medicine’s impact on cancer patients versus the conventional standard cancer treatment. In this case, the conventional medical treatments for cancer include chemotherapy, radiotherapy, surgery, and hormone therapy. So a recent publication that looked into the topic of alternative versus conventional cancer therapy was very important in helping to shed light on this issue. The primary results were somewhat startling, if not discouraging, but also yielded very interesting tidbits of information.


  • Clinical trials basics for patients

    27 / 01 / 2018
    Posted by:

    Dr.M.Raszek


    While clinical trials can conjure up a sense of fear and anxiety, it is more like a white-glove treatment experience for the participants that future users of the same treatment - once it is available on the market - will never experience.

    In many instances, these experimental drug treatments might be the only avenue for some people to be able to battle the disease, or ever gain access to such advanced methods of treatment. Due to the rigorousness of the research process, all of the different phases of clinical trials where different groups of participants are treated can last more than 10 years alone, and sometimes regulatory hurdles can delay the public availability of such ground-breaking treatments even further. Thus, patients in a clinical trial can gain access to very important medication much earlier than they otherwise could have.


  • Most gossiped about genetic news of 2017

    12 / 01 / 2018
    Posted by:

    Dr.M.Raszek


    A new year is starting, and what better way to commence this year’s blog entry than with the recounting of the most shared genetic stories on social media in 2017. This can range in a whole gamut of directions, from the absurd to serious drama to political statements to scientific information, and is an interesting reflection of how genetic topics fascinate the public.


  • Personalized conference - Understand Your Genome 2

    30 / 12 / 2017
    Posted by:

    Dr.M.Raszek


    Imagine attending a conference dedicated around the sequencing of your own genome! A conference where every participant has had their genome sequenced, has had their results delivered, and as a part of the conference, for the first time will view their genome on an online app. And you get educated by the biggest names in the industry.


  • Understand your genome

    06 / 12 / 2017
    Posted by:

    Dr.M.Raszek


    The day had arrived when I was going to see my doctor to receive my own genome sequence data and interpretation. I won't deny that I felt little bit nervous! I thought today could be a day in which I find out that I have an incurable disease, or a predisposition to cancer. Am I ready to face such truths? I have grappled with that question before, and it took me a very long time to decide what kind of information I wanted to receive from my genome sequence. Do I want to find out about having mutations predisposing me to diseases for which there are no cures? Like Huntington disease, or Parkinson's? In the end I decided yes. And there were good arguments for it.


  • Designer babies

    27 / 11 / 2017
    Posted by:

    Dr.M.Raszek


    Too often when I introduce to people what I do and what my interests are, I am met with a reaction of fear that the net result of such work will be the modification of offspring to a desired specification, the so-called “designer babies”. I find it somewhat concerning that this is the type of thinking that people can relapse to on their first encounter with the overall concept of human genome sequencing. On the other hand, one has to respect the notion of fear displayed by the public regarding the concept of manipulation of human genomes for satisfaction of someone's aesthetic desires.


  • Current genome sequencing diagnosis success

    12 / 11 / 2017
    Posted by:

    Dr.M.Raszek


    It cannot be denied that next-generation sequencing has tremendously impacted clinical diagnostic potential. If you suffer from a genetic disease that continues to be unsuccessfully diagnosed using traditional approaches (referred to as a “diagnostic odyssey”), then there is a good chance that genome sequencing will be a viable solution.


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