Review pages 20 and 21 in the required textbook. By the time you get to this topic you should have seen issues related to genomics and chronic diseases in many of the daily lists of research results you have been getting. Consider some of the recommendations made in these papers that illustrate the state of the art and changes we may see in the next few years. What have you learned from the presentations during the course and from invited lecturers on social determinants of health and whether these includes genomics? To illustrate your appreciation for the issue bring with you at least two papers/URLS that indicate how new genetic information may help prevent or delay onset of the conditions you presented during the course, positive or negative. Be prepared to discuss some translational research that could be used to improve population interventions for these conditions. There are a number of studies that show a the effects of environment and development of the disease such as that which has documented the relationship of sickle cell disease to protection from malaria. In addition a recent analysis of chronic kidney diseaseamong African-AmericansHas shown that genetic variations may also account for An excess of chronic kidney disease among African-Americans. It is thought that these particular genes may have been in response to exposure to sleeping sickness but they have now been passed from generation to generation..
Review the CDC Home Page on Genomics. Pay special attention to the section on genomics testing and translational application.
Consider the problem of accessing and improving family histories to prevent chronic disease in future generations. Also review the weekly updates with special attention to this week's update..
Look at the recommendations of the EGAPP working group. While looking at the EGAPP the site take a look at the working group link and the activities link, also look at some of the working recommendations and find out how genetics is becoming translated from the bench to clinical practice.Use the web to look for new advances in genetics application to health care. Can you find any examples where genetics has made a difference? Look at this recent article from the "Scientist" magazine, And this one from the journal Science. Also take a look at this article on translating genomics into improved health care from the British medical Journal. How about creating new limbs?
Thinking about our readings on health equity, is it also a problem in the field of genetics?
Additional Readings for this session
This recent viewpoint from JAMA is fascinating as it relates to who owns human genes, the individual or some research company, or neither?
Is the way public's understanding about genes skewed and do people take unnecessary actions based on reading about genetics and cancer in the news media, see this viewpoint from JAMA.
Genomics & Perinatal care. Why should this be important to reducing the impact of chronic diseases? Note the institution responsible for this Review Article.
Many of the chronic diseases that affect us are associated with autoimmunity, read this recent article from New England medical Journal.
This set of readings below are optional but cover some of the controversies in the current field of genetics:
Genome wide Association studies
Genes linked to low birth weight
The 1000 genome project
IOM Genetics Part1
IOM Genetics Pt II
Modeling human disease
Will the revolution in genetics improve healthcare
Roundtable on Translating Genomic-Based Research for Health
Late breaking Paper 23andMe NEJM March 2014
The Value of Genetic and Genomic Technologies: Workshop Summary (IOM Booklet)
New Approach to Mendelian Disorders - NEMJ Review Paper.
Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.