GENOMICS IN PUBLIC HEALTH AND PREVENTIVE MEDICINE

Topical Supplemental Readings

Instructor: Claudia Mikail, MD, MPH 1

Public Health Genomics and Government

Over the past several years, in the face of budgetary changes and restructuring, there have been some changes in governmental programs and activities in the realm of public health genomics. In addition to your reading, make sure to explore the following links:

In 2011, the charter for SACGHS expired, but it's website and body of work remains an informative resource for healthcare professionals:

The Genetics, Health, and Society arm of the U.S. Office of Biotechnology Activities (OBA) continues its involvement in genomics activities, listed on their website:

In 2012, the Genetic Testing Registry (GTR) was developed as an online information tool on genetic tests.

In addition, the NIH has developed a centralized data repository and website dedicated to Genome Wide Association Studies (GWAS):

Race and Genomics

Related to your assigned reading this week, the link below will take you to an overview of theThe 5th Annual James Baldwin Lecture, "The Meaning of Race in the Post-Genome Era," delivered by Princeton President Shirley M. Tilghman on March 9, 2010 at 5:30 pm in Richardson Auditorium, Alexander Hall.

The video of the lecture in its entirety is available through the link below:

Genetics and Community Health

In 2008, the Genetic Alliance invited organizations to tailor theDoes It Run In the Family?Toolkit to existing community programs and initiatives aiming to promote conversations about family health history.

Explore the following link to read about how various communitiesthroughout the United Stateshave become involved in such efforts:

The State of Iowa Department of Health has also made a commitment to such initiatives. Explore the link below for more details:

Genetic Privacy and Social Media

In this week's reading, you'll learn about genetic privacy laws. Read the link below to see why anonymous DNA sequences posted on public forums, such as Facebook, could still be identified with a particular individual and lead to a breach of privacy:

Advances in Prenatal Diagnosis

One of the newest developments in prenatal diagnosis is the noninvasive fetal DNA test on maternal blood. Instead of amniocentesis or CVS, this technology allows for a pregnant woman's fetus to be screened for Trisomy 21 and other chromosomal anomalies by analyzing a sample of the woman's blood. If the mother's blood test comes back positive then confirmation via a more invasive test might be indicated.

See the links below for more details on this methodology and some of the ethical issues it presents. Note the difference between this new test and traditional maternal serum marker screening.

Careers in Genetics

Are you interested in a career in medical genetics or genetic counseling? If so, you might enjoy exploring the websites of their respective credentialing bodies:

Newborn Screening and Research Ethics

This week you'll be learning about newborn screening. More recently, controversy has surrounded the use of residual blood spots as a resource in public health genomics research. See the link below and think about your opinion on this.

Genetics and Clinical Preventive Medicine

The United States Preventive Services Task Force (USPSTF) has weighed in on the use of BRCA gene testing for women at risk for hereditary breast cancer. See the link below for more details on their guidelines:

See the link below for a Breast Cancer Risk Assessment (GAIL Model) Tool developed by the NCI:

Advances in Microbial Genomics

Interested in learning more about the latest developments in microbial genomics? See the Institute of Medicine's website for a recent Workshop Summary on the topic:

Update on Gene Therapy

The early days of gene therapy were fraught with pitfalls, but recent developments have cast a more optimistic light on its utility for treating disease. The link below points you to an informative article on the state of the science:

Next Generation Sequencing: Whole Exome and Whole Genome Sequencing

With regard to personalized medicine, we're moving closer to full human genome sequencing becoming a clinical reality. The ACMG has developed guidelines on how to approach incidental findings we come across when we currently order comprehensive genome scans, such as whole exome or whole genome sequencing.

Should patients be told about every disease-associated mutation that is discovered on a scan, only mutations associated with particular diseases, or only the mutations related to the disease(s) the patient was being tested for?

See the link below and think about your opinion on this.