Potential Issues in Precision Medicine

The focus of this article was to bring up potential issues that could arise in medical genetic testing. The author of the article stated that there was a girl who had been misdiagnosed for DiGeorge Syndrome. After her misdiagnosis it was later determined that she did not have a missing fragment on chromosome 22.

The author then cited another incident where a women underwent extreme surgery to remove her uterus. It was later determined that the genetic test was read wrong and that the surgery was unnecessary. The risks for misinformation also included maternity care. Which according to the author is not a definitive as some doctors believe it is to be.The author then brings up the issue that medical doctors are not properly trained to diagnose genetic information because most of them were already practicing medicine while the first human genome was being sequenced.

In my opinion the the author brings up a pretty good point on potential malpractice incidents due to medical genetic testing. However I disagree with the author when they said that doctors should be trained in the field of genetics along with everything else they have to know. Doctors have to many things going on to effectively and accurately use genetic testing as a means of preventative healthcare.In my opinion this could and should open a new career path in the medical industry in the years to come.


http://www.newyorker.com/tech/elements/problem-precision-medicine

APOL1 Gene Variants Found To Shorten Life-Span of Transplanted Kidneys

        Results from a previous study showed that transplanted kidneys may not function for long if they came from a deceased African American kidney donor with an APOL1 gene variant. Recently, Barry I. Freedman, MD, led a team of researchers, from Wake Forest School of Medicine, on a search for the link between APOL1 risk variants and shorter survival of transplanted kidneys. The study consisted of 675 deceased donor kidney transplants from African American donors.
        The Apolipoprotein L1 gene, APOL1, is found on chromosome 22 and is responsible for encoding a protein that is bound to high-density lipoprotein (HDL), which is also known as the good cholesterol. 40% of all African Americans with kidney disease, who undergo dialysis and kidney transplantation, are linked to variants in the APOL1 gene. Kidney risk variants in the apolipoprotein L1 gene only affect individuals with recent African ancestry.

 

        The study found that more than a two-fold increased risk of organ failure after transplantation occurred in donor kidneys with two APOL1 gene variants. "These results warrant consideration of rapidly genotyping deceased African American kidney donors for APOL1 risk variants at the time of organ recovery. APOL1 genotype data should be incorporated in the organ allocation and informed-consent process,"says Dr. Freedman.
        I liked this article because it was a confirmation about another study, I feel like now that we have confirmation a certain gene is linked to shorter survival of transplanted kidneys we should take measures and cautions when transplanting kidneys. I agree with Dr. Freedman when he says that APOL1 genotype data should be included in the organ distribution and informed consent process. It was also interesting to hear that this gene variant is only found in African Americans since I am African American.

Main Article: http://www.sciencedaily.com/releases/2014/11/141113194945.htm
Related Article: http://www.newswise.com/articles/gene-variants-in-organ-donors-linked-to-shorter-survival-of-transplanted-kidneys