Doctors
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Clinical utility of your genome
10/05/2018Posted 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.
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Pesky common diseases have pesky genetic roots
31/03/2018Posted 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!
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What can go wrong with your NIPT
12/03/2018Posted 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).
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Clinical trials basics for patients
27/01/2018Posted 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.
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Current genome sequencing diagnosis success
11/11/2017Posted 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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Introduction to non-invasive prenatal testing
25/06/2017Posted by:Dr.M.Raszek
Our cells continuously die or are destroyed, and as they are broken down, their genetic material can be released into the blood stream. Once in the blood, the circulating DNA will be cleared up in matter of hours, but it is a process that occurs on a continuous basis. This allows for a constant supply of DNA to be in circulation, whether it is that of the mother, or of the developing baby.
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How to tell if your genes could be acted on to help
12/05/2017Posted by:Dr.M.Raszek
"Actionable" genes are the genes that if mutated can lead to serious health complications, but where something can actually be done about it for a patient if discovered. So being able to determine what constitutes a gene with beneficial treatment or intervention to take place is definitely important! This is particularly timely work in light of emerging evidence of genetic testing leading to bad decisions with no benefit to patients.