In The News

Each year more than 700,000 newborn babies in the UK have laboratory tests carried out on blood spots to screen for five rare inherited diseases. If these diseases are detected early in life, the baby can be treated, in order to improve health and prevent disability or even death. From July 2012 a pilot study will screen more than 400,000 newborns for a further five very rare diseases. The results will be evaluated after one year by the UK National Screening Committee.

After wide consultation, the US Endocrine Society has suggested that all patients should have a laboratory measurement of blood glucose (blood sugar) on admission to hospital. Raised values are common, even in non-diabetics on general wards, and control of blood glucose has been shown to result in fewer complications and a shorter hospital stay.

Biliary atresia is a rare life-threatening malformation of the bile duct that obstructs the passage of bile from the liver to the gut and causes jaundice. An operation to relieve the obstruction is needed to prevent severe liver damage and possible liver transplantation. It is more likely to be successful the earlier the diagnosis is made. In a study published in the December 2011 issue of the journal Pediatrics researchers report that babies with biliary atresia have raised blood concentrations of conjugated or direct bilirubin as early as the second or third day of life. This blood test is commonly performed in most UK laboratories and the authors suggest it might prove a useful screening test.

During a heart attack, proteins called troponins are released from damaged heart muscle. If a series of sensitive troponin blood tests show no increase during the twelve hours after the onset of chest pain, a heart attack can be ruled out. A recent clinical study from Manchester Royal Infirmary has found that an undetectable sensitive troponin level in the first blood sample of the series allows heart attack to be ruled out immediately. However, patients whose blood carries an antibody to troponin can have misleadingly low test results. Recent work from Germany has strongly suggested that reliability can be improved by the addition of a second rapid test for the stress hormone copeptin.

We reported in a news item last year that patents held on two genes used in a lab test to assess the inherited risk of breast and ovarian cancer had been ruled invalid by a US District Court because the genes exist naturally in the body. A US Federal Appeals Court has now affirmed the validity of the patents because “isolated” gene DNA has a different molecular structure from DNA in the body.

In December 2010 the World Health Organization endorsed the rapid automated DNA test for tuberculosis (TB) of the lung that we wrote about last September. However, it had not been studied in children. Researchers have now tested children who were admitted to hospital in Cape Town with suspected TB and found that it can detect twice as many cases as routine screening by microscopic examination of sputum (phlegm).

Congenital cytomegalovirus (CMV) infection can cause hearing loss and other problems in childhood, but there is no lab test that is suitable to screen all newborns for infection. The New England Journal of Medicine of 2 June 2011 reported a study of a new method using dried specimens of saliva that appears promising for high-throughput large-scale screening.

On 27 April 2011 the National Institute for Health and Clinical Excellence recommended that the general practitioner of a woman who has symptoms suggesting the possibility of ovarian cancer should offer her a blood test for CA125; if it is increased to a level consistent with cancer, she should be offered an ultrasound examination of the abdomen and pelvis.

The Peninsula Medical School in Exeter have found that a simple urine test can help doctors choose the best treatment for their diabetic patients. Patients can post a sample of urine to the hospital for the measurement of C-peptide instead of having to attend hospital to have blood samples taken .

A new study of all well-conducted trials of statin treatment has confirmed that low HDL (the ‘good’ cholesterol) increases the risk of heart attacks and the risk does not fall even when statins reduce the LDL (the ‘bad’ cholesterol) in those with low HDL levels.