Personal Genome Evaluation and GINA

1. Personal Genome Evaluation and GINA By Mark Neuhengen

2. The Language of Life In 2010 the Former head of the National Human Genome Research Institute, and the leader of the leader of the National Genome project, Francis S. Collins wrote the Book “The Language of Life”. It focused on the recent revolutions in the fields of genetics, DNA, different diseases (both mutation based and hereditary) and treatments that are either available or may become available. The book was heralded as being easy to understand and a great source of information about DNA and related genetic topics

3. Constructing your own family Pedigree In Recent years, there have been many different ways that have been made to construct your own family pedigree. One of these ways is www.familyhistory.hhs.gov/ On this website all you have to do is put in some personal information about yourself like height, weight, gender and if you are adopted. The most important information to put in is if you have any medical conditions such as diseases. After you put in the information, all you have to do is put the same information in for your relatives. Eventually you have made a pedigree for your family.

4. Checking your Genome right now Through the wonders of Modern technology, You are able to check your entire genome for diseases you have or diseases you will develop. Right now if you want to check your entire genome it will cost 25,000 dollars or more. This is not your only option though, you are able to scan small portions of your genome to see the chances of developing a certain disease. To do this, it will cost up to 1,000 dollars. This isn’t all, experts are predicting that the price are expected to decrease, to as low as 100 dollars in 2020. With all of this, there are some draw backs. http://healthland.time.com/2012/10/23/drugstore-genomes-whos-pushing-the-sequencing-industry/

5. Personalized Medicine Personalized medicine is the tailoring of medical treatment to the specific needs of a person. Modern doctors and scientists use personalized medicine to find out if a certain treat would help cure a patient or cause more maladies. Through personalized medicine doctors have helped treat breast cancer, HIV/AIDS and assorted cardiovascular diseases

6. Pharmacogenetics With the advancement of personalized medicine, so has there been advancements in pharmacogenetics or the way a person reacts to a medicine. Ways that people react to certain drugs are decided by differences in small changes in DNA With knowledge of certain small variations in DNA or SNPs doctors may find ways to predict the effects of certain medicines. This is especially important in treatment of certain cancers such as breast cancer where certain treatments may be harmful to some people. Also some treatments may not work or work slowly

7. The Consequences of knowing your Genome With modern medicine helping being able to learn your future. Who should know your medical future? Should your employers know? who should know? Should your insurance pay for everything? Who will explain your genomic future and where will the information be held. In 2005, The United States government created the Genetic Information Nondiscrimination Act or GINA. In this act, the government promises that employers can not discriminate against you in any employment situation whether it be hiring or firing. It also includes harassment based on your genomic makeup.

8. Prenatal Diagnosis Prenatal Diagnosis is the testing of a fetus for any genetic abnormities. Some disorders that might be found include Cystic Fibrosis and Tay-Sachs disease The same questions come back, including if you really want to know what diseases your child has.

9. An example of the chances XY - boy height SNPS - he will be about 6'1" T2D SNPs - ~4.1% chance for adult onset Type 2 Diabetes 1.9% chance of developing rheumatoid arthritis 2.6% chance of developing osteoporosis 8.1% chance of attention deficit hyperactivity disorder 4.9% chance of developing hypertension 0.6% chance of becoming alcohol dependent 16.2% chance of developing prostate cancer as an adult 57.7% chance of being gifted musically 5.9% chance of having an agreeable personality 39.4% chance of being very conscientious 75% chance of migraines 80% chance of being autistic? Taken from Genetic Conference Sheet

10. The End Questions?

11. References http://www.personalgenomes.org/?gclid=COPx6d7XrrUCFcc-MgodoRYAiQ http://www.academia.edu/1159907/Francis_Collins_-_The_language_of_life_-_book_review http://search.barnesandnoble.com/Language-of-Life/Francis-S-Collins/e/9780061733178 http://www.genome.gov/10000779 http://www.personalgenomes.org/?gclid=COPx6d7XrrUCFcc-MgodoRYAiQ http://healthland.time.com/2012/10/23/drugstore-genomes-whos-pushing-the-sequencing-industry/ http://www.ageofpersonalizedmedicine.org/what_is_personalized_medicine/ http://sbcny.org/Pdfs/Pharmacogenomics/Breast%20Cancer.pdf http://www.ncbi.nlm.nih.gov/About/primer/pharm.html http://www.eeoc.gov/laws/types/genetic.cfm http://www.genome.gov/11510227 https://cepmed.dnadirect.com/grc/patient-site/prenatal-diagnostic-tests/what-are-prenatal-diagnostic-tests.html?OMZ8F05dSwC2_pcjb3r6gPZ http://wordnetweb.princeton.edu/perl/webwn?s=prenatal%20diagnosis Genetics conference sheet