IEM Screening: Will Insurers Cover Genetic Testing?

What are Metabolic Disorders?

The Madness of King George movie, released nine years ago, was based on the life of King George III who was diagnosed with manic depression or ‘madness’ by physicians during the early 1800s. We now know today that the ‘The Royal Malady’ he had was Porphyria, a type of Inborn Error of Metabolism (IEM) disorder.

IEMs are characterized by genetic abnormalities that can result in a deficiency in certain enzymes to process chemicals in the body. In the case of Porphyria, there is an accumulation of Porphyrins in the body and this disorder is also known as Orphan Disease.

Porphyrins are an intermediary product that are present in our bodies before being converted into the protein Haeme, a vital component of our blood make up. When somebody is suffering from Porphyria, symptoms can often include purple urine, sun sensitivity and mental health problems. Some cases can be fatal and others can cause mental retardation if there is an early onset that is left untreated.

Metabolic disease in Hong kong and genetic testing

In Hong Kong alone, around one in 4000 babies have IEM disorders. Typically, testing is usually conducted upon the onset of symptoms. However, the Chinese University of Hong Kong in conjunction with the Joshua Hellmann Foundation for Orphan Disease (JHF) has just announced a newborn genetic testing program to determine any IEM diseases prior to the onset of symptoms. The test is can be done shortly after the baby is born simply by taking a tiny blood sample. It is designed to test for 30 specific amino acid metabolic disorders which include Hyperphenylalaninemia, also known as Phenylketonuria.

This disease in particular has a higher incidence in Asian babies compared to Caucasian babies according to a study carried out by scientists at the Princess Margaret Hospital, whose findings were published in the Chinese Medical Journal in 2011.

Early screenings would mean that some metabolic disorders could be detected early and prophylactic treatment could be initiated as early as possible to prevent brain damage, as in the case of Porphyria.

Treatment could then include putting the newborn on a special diet low in certain amino acids that have already accumulated in the newborns body at elevated levels due to the lack of enzyme to process it thoroughly.

A donation from the Joshua Hellmann Foundation has meant that unlike many new genetic tests which can be very costly, newborns can be assessed for as low as $800 HKD. At present, tests can only be carried out at private hospitals or at the Chinese University Pediatrics centre.

Medical Insurance Coverage

Despite the affordability, if a child is found to test positive for one or more IEMs, the cost of the test alone does not include the cost of treatment, although treatment may only require diet alterations and frequent monitoring at the hospital or doctor.

If there are complications however, costs could increase and parents may require their insurance policy to cover such procedures. According to a senior insurance adviser at Kwiksure, despite the increase in popularity of such genetic tests, most insurers may be reluctant to include coverage for these in their policies.

If a newborn displays no symptoms for IEMs, the majority of insurers will be reluctant to cover preventative treatments. However, if a baby has already manifested signs of IEM as soon as they are born, then the treatment would usually be included, provided the parents existing maternity policy includes newborn insurance. This is also the case for families who have opted to include their baby into an existing plan.

Another point to consider regarding preventative testing is whether insurers would deem conditions present in the newborn as pre-existing. On extremely rare occasions, coverage may be offered on a case by case basis, particularly if particular disorders are known to run in the family. In those cases, early diagnosis might be a better outcome to reduce the long term medical costs.

Overall, insurance companies will not usually provide cover if the infant actually has been diagnosed with the condition, unless under exceptional circumstances. Furthermore, they may be unlikely to act upon the results of the IEM test even if the baby tests positive for a few of the 30 different disorders screened for in the test.