Genetic Medicine

an emerging medical discipline that involves using genomic information about an individual as part of
their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and
policy implications of that clinical use." Already, genomic medicine is making an impact in the fields
of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease.

Examples of Genomic Medicine

Translational

 The causes of intellectual disability are often unknown, but a team in The Netherlands has used
diagnostic exome sequencing of 100 affected individuals and their unaffected parents in order to
uncover novel candidate genes and mutations that cause severe intellectual disability. NEJM,
2012. [PubMed]

 Colorectal cancers with a particular mutation can benefit from treatment with aspirin post-
diagnosis. Aspirin (and other non-steroidal anti-inflammatory drugs) decrease the activity of a
signaling pathway called PI3K. Between 15 and 20 percent of colorectal cancer patients have a
mutation in a gene called PIK3CA that makes a protein that's part of the PI3K pathway, and it
has been discovered that regular aspirin treatment is associated with increased survival
compared to colorectal cancer patients who have the non-mutated version of PIK3CA. NEJM,
2012. [PubMed]

 Currently, every baby born in the United States is tested at birth for between 29 and 50 severe,
inherited, treatable genetic diseases through a public health program called newborn screening.
Whole genome sequencing would enable clinicians to look for mutations across the entire
genome simultaneously for a much larger number of diseases or conditions. Rapid whole
genome sequencing has been shown to provide a useful differential diagnosis within 50 hours
for children in the neonatal intensive care unit. Science, 2012. [PubMed]

 Researchers at Stanford University in California have been developing a new test to detect
when a transplanted heart may be rejected by the recipient. Currently, the only way to detect the
onset of rejection is by performing an invasive tissue biopsy. This novel approach only requires
blood samples, and detects the levels of cell-free circulating DNA from the donor organ in the
recipient's blood stream. This circulating DNA from the donor can be elevated for up to five
months before rejection can be detected by biopsy, and the level of DNA correlates with the
severity of the rejection event (i.e., more circulating DNA signals a more severe event). Sci
Transl Med, 2014. [PubMed]

Oncology is a branch of medicine that deals with the prevention, diagnosis, and treatment
of cancer. A medical professional who practices oncology is an oncologist.[1] The name's
etymological origin is the Greek word ὄγκος (ónkos), meaning "tumor", "volume" or "mass" and the
word λόγος (logos), meaning "speech".[2]
The three components which have improved survival in cancer are:

1. Prevention – by reduction of risk factors like tobacco and alcohol consumption[3]

2. Early diagnosis – screening of common cancers[4] and comprehensive diagnosis and staging
3. Treatment – multimodality management[5] by discussion in tumor board and treatment in a
comprehensive cancer centre[6]
Cardiology (from Greek καρδίᾱ kardiā, "heart" and -λογία -logia, "study") is a branch
of medicine dealing with disorders of the heart as well as parts of the circulatory system. The field
includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart
failure, valvular heart disease and electrophysiology. Physicians who specialize in this field of
medicine are called cardiologists, a specialty of internal medicine. Pediatric cardiologists
are pediatricians who specialize in cardiology. Physicians who specialize in cardiac surgery are
called cardiothoracic surgeons or cardiac surgeons, a specialty of general surgery.

Cardiology, medical specialty dealing with the diagnosis and treatment of

diseases and abnormalities involving the heart and blood vessels. Cardiology
is a medical, not surgical, discipline. Cardiologists provide the continuing care
of patients with cardiovascular disease, performing basic studies of heart
function and supervising all aspects of therapy, including the administration of
drugs to modify heart functions.