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The Future of Newborn Screening: Genomics and Challenges
Newborn screening (NBS) is crucial for early detection of severe health conditions in infants, enabling timely interventions that can prevent disabilities or death. While the testing varies globally, the push for genomic screening is increasing. Challenges include ethical considerations, disparities in access, and the need for consistent screening panels across different programs.
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Ovarian Cancer: Importance of Early Detection and Symptoms
Ovarian cancer, the 5th leading cause of cancer death in women, has a low 5-year survival rate due to often late diagnosis. Symptoms include abdominal pain, bloating, fatigue, and abnormal bleeding. Risk factors involve age and family history. Efforts are ongoing to improve early detection methods to enhance survival rates.
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Role of videos in genetic education
As you have noticed, I have been away again. Many things have happened over the past year and I decided to take some time away. And as we thought things were back to normal and life is settling down, this year started with an epidemic, which became a pandemic and now we have been under…
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How much do you want to pay for genetic education and educational resources?
In October 2018 Mayo Clinic has entered an app world with Mayo Clinic GeneGuide, which is a DNA testing and educational app and is available through the Helix platform. While paying for access to one’s results and their re-analysis seems a fair idea, the same cannot be said for the educational part of the app.…
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A very short primer to Next Generation Sequencing
What is Next Generation Sequencing? Next Generation Sequencing (NGS) is also known as high-throughput sequencing. It allows for rapid sequencing of whole genomes or specific PCR amplicons of interest. NGS can be used for sequencing DNA or RNA from various sources. In some ways, it is not that different from some older methods, such as capillary…
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Point-of-care next generation sequencing, fiction or reality?
Point-of-care diagnostics (POC Dx) takes care at or near point of care. Currently, there are a lot of tests which are done at point of care and not in a central testing lab. There is an obvious advantage to doing so, as rapid results can lead to immediate treatment. However, not all tests are suitable…
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What is the value in sequencing healthy children?
Questions about sequencing healthy people, in particular children keep coming up constantly. Should we or shouldn’t we, what is the value of doing it? Let’s have a look what are the pros and cons in doing so. Why would we want to sequence healthy people? Human genome consists of 20,000 to 25,000 genes and a…
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What is PCR?
Since we have been discussing various diagnostic methods I think it is a good idea to have a short information about what those methods actually do, so here is the first of the technical posts. I will be posting those to help in explaining what the different methods and terms mean. This first installment is…
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Mistakes in direct to consumer genetic testing
The news broke out in March 2018 about mistakes discovered in results returned from DTC genetic tests. While it was not completely unexpected that there will be some mistakes in genotyping performed by various providers, the scale was definitely unexpected. Ambry Genetics, has published a paper in Genetics in Medicine, describing their findings on the…
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A maze of direct to consumer genetic testing
Direct to consumer (DTC) genetic testing has been a growing field. We now have tens of companies offering a variety of tests in DTC mode. There are tests relating to ancestry, health, family planning, or lifestyle, such as fitness and diet. There have been a lot of recent opinions and reviews on the tests available.…
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Making sense of your genome