Included below are news items from the last six months.
An international team of researchers has found that mutations in the PALB2 gene are an important cause of hereditary breast cancer. The scientists suggest that evaluations of breast cancer risk should include tests for PALB2 mutations, along with the better known BRCA mutations tests. However, additional studies are likely needed before major health organizations support its inclusion.
The World Health Organization (WHO) declared Ebola an international public health emergency on August 8, 2014, and the number of cases of Ebola continues to rise in West Africa. There is some evidence that these numbers may be vastly underestimated. Confirming cases through laboratory testing, tracking the spread of the disease, and additional coordinated efforts between WHO, the Centers for Disease Control and Prevention (CDC), and other global agencies are essential for helping to stop further spread of the Ebola virus.
The FDA has released its new final guidance on companion diagnostics. These are laboratory tests that are developed in conjunction with new therapies and are often essential in determining whether the therapies will be effective in certain patients. The goal of the guidance is to provide faster access to new treatments for people with serious and sometimes life-threatening conditions.
UPDATE (8/12/14): The FDA has approved the stool DNA test reported in this article.
A new option for colon cancer screening may soon be available. An advisory committee voted unanimously to recommend to the FDA that a stool DNA test be approved for marketing. Unlike other options, such as colonoscopy, the stool test is non-invasive and the sample can be collected at home with no need for bowel preparation or medication. The FDA is expected to make its decision on whether to allow the test to be marketed in the next few months.
Public health officials from the CDC and the Association of Public Health Laboratories have jointly endorsed the use of a new HIV testing strategy that aims to make HIV diagnoses earlier in the course of the disease and decrease the rate of transmissions from acute infections. Early, acute HIV infections contribute disproportionately to the spread of the virus and are the source of a substantial number of new infections.
A new report by the CDC has found that more than 29 million people in the U.S. have diabetes, up from the previous estimate of 26 million in 2010. Significantly, one in four people, according to the report, may not know that they have the disease.
Measles is on the rise this year, raising concern among U.S. health authorities. According to the Centers for Disease Control and Prevention (CDC), 288 cases of measles were reported between January 1 and May 23, 2014 in this country. This is the largest number of measles cases in the U.S. reported in the first five months of a year since 1994. The CDC says that nearly all of the cases reported have been linked to international travel by U.S. residents or visitors who had not been vaccinated against the disease. Vaccination is the best way to prevent measles.
The CDC recently launched a risk assessment tool called Know:BRCA as part of an education initiative to raise awareness and provide important information on BRCA genes. Mutations in BRCA genes can increase a woman's risk of developing breast and ovarian cancer and are more common in certain families and ethnic groups. The new tool helps identify women who may be at higher risk and, after genetic counseling, who might benefit from BRCA mutation testing.
Two cases of Middle Eastern Respiratory Syndrome (MERS), caused by a potentially fatal virus (MERS-CoV), have been reported in the United States by the Centers for Disease Control and Prevention. The people who were diagnosed are healthcare workers who had traveled from Saudi Arabia. Though risk to the U.S. public remains low, there is concern because MERS-CoV is highly virulent.
In its latest recommendations to clinical laboratories, the CDC now promotes nucleic acid amplification testing (NAAT) as the preferred method to screen for two common STDs, chlamydia or gonorrhea, in men and women. The method is very sensitive and the samples required for testing are relatively easy to obtain.
Colon cancer rates have dropped by as much as 30% for adults aged 50 and older in the U.S., according to the latest statistics published by the American Cancer Society. While more needs to be done to ensure widespread access to screening, the new data suggest that improved use of colonoscopy, in particular among people 50 to 75 years of age, has contributed to lowering colorectal cancer rates.
An FDA advisory panel has voted unanimously to recommend to the FDA that a human papilloma virus (HPV) test be approved for marketing in the U.S. as a primary screening tool for cervical cancer. Currently, only the Pap smear is used for primary testing and HPV tests are recommended only in conjunction with or as a follow up to Pap smears. If approved by the FDA, the HPV test might become an initial screening option for women.
Researchers believe they have found a protein detectable in blood that could be used to help rapidly diagnose a concussion, leading to better management of those affected. While the biomarker, total tau or T-tau, needs to be evaluated in larger studies, it raises hope that health practitioners may in the future be able to use blood tests to manage head injuries and make return-to-play decisions for athletes following a concussion.
Researchers have developed an experimental blood test that may be able to be used to predict whether someone will develop Alzheimer disease. Although currently there is no prevention or cure for the disease, the test could aid in the development of treatments and help identify people at risk so they could then plan for managing the disorder. However, some scientists caution that the results of the study must be replicated in other laboratories and that the researchers may be overly optimistic about the clinical benefit of the test at this time.
The U.S. Food and Drug Administration has released two separate draft guidance documents detailing the agency's recommendations for manufacturers to improve both over-the-counter and point-of-care blood glucose meters. This marks the first time that the FDA has issued separate documents for the two types of meters, stemming from the need to address the different ways that patients and professionals use the meters.
The American Academy of Pediatrics has updated its schedule of the screenings and health assessments that are recommended at each well-child visit from the time a baby is born through age 21. Well-child visits generally involve screening tests, including laboratory tests, as well as other assessments that are done routinely to help evaluate a child's health and recommend treatment, if needed.
The U.S. Department of Health and Human Services (HHS) has issued a final rule that now allows a patient, or a person designated by the patient, direct access to laboratory test reports without the need to have the tests sent to a physician first.