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    Seven diseases benefiting from genetic tests


    Hereditary colon cancer

    Individual cancers may occur as a manifestation of a genetic cancer syndrome, which are treated differently than those that aren’t genetic due to higher probabilities of recurrent cancer as well as secondary cancers associated with specific genetic syndromes, says Richard P. Frieder, MD, cancer geneticist and director of the Women’s Cancer Prevention Program, John Wayne Cancer Institute at Providence Saint John’s, Santa Monica, CA. 

    Colon cancer is known to have a hereditary predisposition in at least 5% of cases. More than 15 cancer syndromes may present with colon cancer as the initial malignancy in a syndrome, of which a patient and their family members may be at risk, Frieder says. The most common syndromes include Lynch, familial adenomatous polyposis, Li-Fraumeni, Cowden, Peutz-Jeghers, POLD1, POLE, and GREM1.

    Given the estimated cost of treatment, the cost of genetic risk assessment is highly cost effective, Frieder says. Most laboratories charge $500 to $2,000 for this type of genetic testing for colon cancer and other genetic cancer syndromes.

    Patients with inherited genetic syndromes that predispose them to cancer can benefit from earlier diagnosis with improved morbidity and mortality rates. Primary prevention is possible for most common inherited cancers such as breast, ovary, colon, and uterine, Frieder says, but this is only possible for individuals who are aware of their genetic mutations and the associated cancer risks.

    Secondary prevention is possible for patients who have already been diagnosed with one type of cancer, who are concerned about preventing another type of cancer which may be associated with their genetic syndrome, Frieder says.

    Rheumatoid arthritis

    Biomarkers are also being used to detect and monitor certain rheumatology conditions. Catherine H. MacLean, MD, PhD, rheumatologist and chief value medical officer, Hospital for Special Surgery, New York, says biomarkers are used to help diagnose rheumatoid arthritis and track and treat disease activity, which in turn can prevent joint damage.

    Rheumatoid factor (RF) and antibodies against cyclic citrullinated proteins (anti-CCP) are biomarkers that are routinely used to establish a diagnosis of rheumatoid arthritis, and are part of the 2010 American College of Rheumatology/European League Against Rheumatism criteria for its diagnosis. A number of other biomarkers are under investigation, but their utility in clinical care has yet to be established.  

    Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are two biomarkers that can specifically indicate inflammation and other disease indicators. “These biomarkers may be used alone or in combination with several other parameters to measure disease activity, which is used to direct therapy,” MacLean says. “Higher levels may lead to increasing drug dosages, adding additional drugs, or changing drugs in a treatment regimen. Conversely, low disease activity may result in lowering doses or stopping drugs.”

    Biomarkers in rheumatoid arthritis impact costs by identifying disease activity early, allowing for aggressive treatment, and preventing joint damage, which can lead to disability and expensive joint replacements. They can also identify patients at risk for certain disease comorbidities (e.g., ophthalmic disease, rheumatoid lung disease) and aid in selecting drugs that will be effective for specific patients.

    Next: Lupus



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