In February 2015, the British Parliament approved the creation of a human embryo from the DNA of three people: mother, father and a donor mother. The modified in-vitro fertilization (IVF) technique, called mitochondrial replacement therapy (MRT), would help some mothers with known rare mitochondrial mutations avoid passing on unhealthy defects. These defects can cause severe or deadly diseases, which are often incurable, such as muscular dystrophy, heart and kidney disease, liver ...

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In my first quarter of medical school, I learned about prenatal screening for cystic fibrosis (CF), a progressive multisystem disease caused by an autosomal recessive mutation in the CF transmembrane regulator gene. We also learned about bronchiectasis, a common pathology of CF that consists of the irreversible enlargement of airways, promoting continuous low-grade bacterial infection and causing deadly respiratory failure. But despite my hours of studying and memorization, these clinical facts ...

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Although we are all very similar, there are genetic differences between us that can affect our health. In different populations, people share different frequencies of certain genes. These gene variants can explain differences in medication responses, incidence of disease, and protection from illness. For example, warfarin is a widely prescribed medication that is used to prevent clotting and ischemic stroke. The dosing of this medication was previously generic and does not ...

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shutterstock_146497481 Genomics and its impact on clinical medicine appear to be the topics du jour. The science is rapidly advancing, but our ability to understand and apply that science may not be keeping pace. The question is whether expectations will meet the promise, and are we wise enough to navigate the maelstrom and bring true benefit to our patients and consumers in general? Three ...

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In my work as a bioethicist, I have very rarely taken an “absolutist” position regarding the use of a biomedical technology. But when I read an article titled “Chinese Scientists Edit Genes of Human Embryos, Raising Concerns,” my reaction was that this should not be done. I am not alone. The technique mentioned enables genes to be altered in every cell ...

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The president's proposed Precision Medicine Initiative, as mentioned in his recent State of the Union address suggests it's probably time to get ready for some changes in our daily routines as health professionals. I'm not talking about the incredible information that has already been produced by researchers examining the human genome. Nor am I referring to the work that is going on in major cancer centers and elsewhere exploring how to better ...

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medpagetodayFrom MedPage Today:

  1. President Promotes ‘Patient-Powered’ Genomics Project. Imagine if physicians could select a personalized cure for a particular patient's cancer in one easy step.
  2. Match Not to Blame for Low Resident Salaries. Resident salaries are low, but it's not the match's fault.
  3. Mixed Results for Obamacare Tests in Primary-Care ...

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Personalized medicine. Predictive medicine. Targeted medicine. These are just some of the descriptors being applied to “genomic medicine,” a field of medical research generating much fanfare and hope for the future. Genomics, according to the Centers for Disease Control and Prevention (CDC), is the study of all the genes in the human genome – that double-stranded DNA helix that defines who we are and what we’re made of. Building on ...

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The first time scientists sequenced a person’s entire genome, it took more than a decade and cost hundreds of millions of dollars. Currently, such sequencing takes less than twenty-four hours and costs less than $5,000. To put that into perspective, Myriad Genetics charges $3,000 to test for mutations in just two genes associated with breast cancer. The days of affordable genomic sequencing are rapidly approaching. But will such testing bankrupt us? In most consumer ...

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DNA Day came and went this past April. On this date in 1953, the work of James Watson and Francis Crick (and, though she doesn’t appear as an author, Rosalind Franklin) describing the structure of DNA was published. The paper, published in Nature, connected a string of dots that stretched back a century, to Gregor Mendel’s work describing the heredity of peas. That string of dots (or peas, as the case may ...

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