Personal+Genomics+of+Alzheimer's+Disease+Discussion


 * 23andMe Testing Results **


 *  23andMe is a direct to consumer personal genomics testing website.
 * It analyzes DNA from saliva samples collected at home by the consumer and mailed into the company for testing.
 * 23andMe tests for Alzheimer's Disease (AD) through allele variations in the APOE gene as seen on results figures 1 and 2.
 * The APOE gene is found on chromosome 19 (figures 3 and 4).
 * The website does state it is not clear what function the APOE gene plays in the development of AD, although it links the resulting protein with build-up of β-amyloid in the brain.
 * The structure of the normally-functioning APOE3 protein can be seen in figure 5 of the results section.
 * 23andMe also points out that having a ε4 allele does not guarantee development of the disease.
 * Many people who are post-mortally diagnosed with Alzheimer’s have no copies of APOE ε4.
 * The website states that the presence of the variant has the best correlation with decreased age of onset in those that do develop AD.
 * The technical report does say that the most significant risk factor is a first-degree relative that has developed Alzheimer’s disease.
 * This may be compounded with the presence of the APOE ε4 variant.
 * The 23andMe site discusses rare genetic mutations that are not part of their data set but that are linked to early-onset AD as well as additional variants that may influence risk for Alzheimer’s.
 * The website also mentions other factors that may contribute to the development of the disease such as cardiovascular conditions, higher LDL cholesterol levels and head trauma (23andMe, n.d.).


 * FDA regulation of Alzheimer's Disease Testing from 23andMe **


 * The FDA sent a letter to 23andMe in 2013 halting the company’s testing for most of their 254 health risk related results.
 * <span style="font-family: Verdana,Geneva,sans-serif;">The FDA cited concerns regarding the company’s use of testing for diagnoses and/or prevention of disease as well as the risks of selling the information directly to consumers.
 * <span style="font-family: Verdana,Geneva,sans-serif;">Through 23andMe consumers are not required to get assistance with interpreting the results from a physician or genetic counselor.
 * <span style="font-family: Verdana,Geneva,sans-serif;">The FDA has called for 23andMe to prove clinical validity and obtain authorization for each of the health risk data sets that it previously provided to consumers in order to allow the company to continue to provide that information.
 * <span style="font-family: Verdana,Geneva,sans-serif;">23andMe has since halted its health-risk testing but continues to provide ancestry information and allows consumers access to their raw data without interpretation by the company.
 * <span style="font-family: Verdana,Geneva,sans-serif;">Although direct to consumer genetic testing has essentially halted, testing can still be ordered through other companies by a health care provider (Zettler et al, 2014).

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 * <span style="font-family: Verdana,Geneva,sans-serif;">Based on the available data, it is understandable why the FDA may have had concerns about the 23andMe testing.
 * <span style="font-family: Verdana,Geneva,sans-serif;">In the case of Alzheimer’s disease, the company was only testing for one contributing variant of the disease despite research showing many other genomic risk factors as well as epigenomic and environmental contributors (figure 6) that may have great effect on the development of the disease.
 * <span style="font-family: Verdana,Geneva,sans-serif;">However, 23andMe did an excellent job on their website listing and discussing all known research about AD risk in a way that general consumers with a very basic genomics background could understand.
 * <span style="font-family: Verdana,Geneva,sans-serif;">The requirement of the FDA for clinical validity of all health-risk data seems a lofty task for the company, especially considering how much is still not known about Alzheimer’s disease risk (as only one example).
 * <span style="font-family: Verdana,Geneva,sans-serif;">I believe that as long as researched-backed information is presented along with the data, access to testing should not be withheld from the consumer.
 * <span style="font-family: Verdana,Geneva,sans-serif;">The consumer should have access to any information that is currently available, despite the fact that our knowledge of the disease is far from complete.
 * <span style="font-family: Verdana,Geneva,sans-serif;">The limitations of the data (what is still not known about genomic testing for the condition) should be presented to the consumer as well as the testing results.
 * <span style="font-family: Verdana,Geneva,sans-serif;">Research for Alzheimer’s disease as well as many other conditions could even be moved forward with an increased number of people having an interest in their genomic data.


 * <span style="font-family: Verdana,Geneva,sans-serif;">Continuing Research **

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 * <span style="font-family: Verdana,Geneva,sans-serif;">Further research on AD risk should focus on:
 * <span style="font-family: Verdana,Geneva,sans-serif;">The biochemical pathway of APOE as it relates to AD pathology.
 * <span style="font-family: Verdana,Geneva,sans-serif;">Understanding the other genomic influences for the disease.
 * <span style="font-family: Verdana,Geneva,sans-serif;">Possible routes of prevention related to the environmental risks discussed.
 * <span style="font-family: Verdana,Geneva,sans-serif;"> Viable treatment for those with symptoms of Alzheimer’s disease.

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