geneIQ – Genetics and Diagnostics

geneIQ – Genetics and Diagnostics

Making sense of your genome

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  • 23andMe in hot water with the FDA

    23andMe in hot water with the FDA

    The FDA has just issued a warning letter to 23andMe on the 22nd November 2013 to cease their direct-to-consumer marketing of the Saliva Collection Kit and Personal Genome Service (PGS) as it has no FDA clearance. 23andMe launched its services in 2007 and continued to grow in the genetic testing market. It claims to have continued…

    Categories:

    Direct-to-Consumer Genetic Testing, Genetics, Genomics, Health

    By

    agnescaruso
    November 26, 2013
  • Public interest in genetic testing and genetic educations

    Public interest in genetic testing and genetic educations

    A Triangle Startup Weekend is a a good place to test your ideas and find like minded people to work on a idea you pitch. This weekend I decided to pitch something very close to my heart and my background – an idea for genetic education/guide tool. And surprisingly enough I got an amazing response…

    Categories:

    community genetics, genetic education, Genetics, Triangle Startup Weekend

    By

    agnescaruso
    November 17, 2013
  • Proficiency testing in the era of NGS

    Proficiency testing in the era of NGS

    Next generation sequencing (NGS) appeared to be the main focus of many presentations at ASHG 2013 in Boston. In 2009 I was predicting a quick decrease in costs of NGS and a rapid invasion of the technique into the clinics. As we currently see the prices have fallen down to nearly affordable, however, they are…

    Categories:

    ASHG, Bioinformatics, Genetics, NGS, Technology, Variant analysis

    By

    agnescaruso
    October 31, 2013
  • Human genome helping medicine – how far is it going?

    Human genome helping medicine – how far is it going?

    I recently read a blog by Veronica Combs and the Mayo Clinic list of advancements possible by the human genome mapping. While there are obvious advances already making a difference in people’s lives, some of them are only a possibility, which will hopefully soon materialize. Here are just some of the thoughts on the topic.  2.…

    Categories:

    genetic testing, Health, personalized lifestyle, personalized medicine

    By

    agnescaruso
    October 9, 2013
  • What does coffee have to do with genome re-sequencing?

    What does coffee have to do with genome re-sequencing?

    A presentation that I gave recently at BioConference Live on  Genetics and Genomics focused on using re-sequencing in human genetic testing. While this talk focused on technology comparison – microarrays vs NGS, there were a few important aspects that are independent of the platform used for re-sequencing. A critically important component of re-sequencing is availability of…

    Categories:

    genetic testing, Genetics, Health, Re-sequencing

    By

    agnescaruso
    August 30, 2013
  • NGS in the clinic – New challenges for geneticists and genetic counselors

    NGS in the clinic – New challenges for geneticists and genetic counselors

    Previously we talked about getting our genetic testing done. Running a test in the laboratory is just a part of the process. An even more important part is analysis, reviewing and interpretation of the results before you see them. Who are the people behind the piece of paper you see once your test is done?…

    Categories:

    genetic counselor, genetic testing, Genetics, Health, medical geneticist, NGS, Technology, whole genome sequencing

    By

    agnescaruso
    July 18, 2013
  • Personalized cosmetics, diet supplements… What is going to be next?

    We all know about personalized medicine based on the genetic or genomics screen of our DNA. Now it is time to brace yourself for personalized cosmetics also based on a DNA test. If you do not believe check out those two companies: Israeli based Cosmetics DNA (http://www.cosmetics-dna.com) and the USA based Dermagenetics (http://dermagenetics.com). Both of…

    Categories:

    Direct-to-Consumer Genetic Testing, genetic testing, Genetics, Health, personalized lifestyle, personalized medicine

    By

    agnescaruso
    June 17, 2013
  • Genetic disease screening – targeted re-sequencing what to use microarrays or NGS?

    I have been recently asked to assess what is the better technology for screening for genetic diseases and why would someone want to use microarrays to do it. NGS and microarrays are very different technologies with their own pros and cons. So let’s look at what they are and which one is truly better. Targeted re-sequencing…

    Categories:

    microarrays, NGS, PCR, Re-sequencing, Technology

    By

    agnescaruso
    May 29, 2013
  • Do you know that your genetic information is a protected health information (PHI)?

    Do you know that your genetic information is a protected health information (PHI)?

    Are you interested in testing your genes for any reason? If you followed my blog you would know that there are some good reasons to do it and how to go about getting it done. Now you decided to get tested, before you take the last step you need to consider implications of the test…

    Categories:

    genetic testing, Genetics, Health, informed consent, protected health information

    By

    agnescaruso
    May 9, 2013
  • Are we looking at one side of a coin with genetic tests?

    Are we looking at one side of a coin with genetic tests?

    Genetic testing becomes a very common practice among the consumers. We can have our genetic makeup determined by various tests, starting at $99 and going up to $5000 or more per test. The quality of the tests varies, and information delivered is different. What can we find out from the test: a carrier status test for selected…

    Categories:

    Direct-to-Consumer Genetic Testing, genetic testing, genetic tests, Genetics, Health

    By

    agnescaruso
    April 29, 2013
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geneIQ – Genetics and Diagnostics

 

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