Will your medical aid pay for preventative DNA testing?

With medical, scientific and technological advancements being made all the time, it is possible to identify a person’s susceptibility to a medical condition before symptoms arise. Moneybags journalist Jessica Anne Wood looks at preventative DNA testing, and if and when your medical aid will cover the expense.

Dr Jonathan Broomberg, CEO of Discovery Health, explains that preventative DNA testing refers to genetic screening in healthy individuals to identify the individual’s risk of developing specific conditions and provides an opportunity for early intervention where necessary. Due to this, it has no role in the diagnosis of a condition, according to Broomberg.

By contrast, Dr Christo du Preez, Bestmed’s medical advisor, states that DNA testing is a diagnostic tool that is applied to a spectrum of clinical applications ranging from prevention and screening, all the way to verifying specific diagnoses.

“DNA testing has the potential to play a significant role in the future of clinical medicine as the part played by genetic aberrations in the make-up and cause of disease and disease patterns are being realised more and more. At the same time, it is also true that many aspects of DNA testing are still being refined and standardised, meaning that it will take a while for some of these tests to become integrated into the evidence-based platform that health funders are working from,” says du Preez.

Genetic screening

“It has been suggested that sequencing can be carried out on healthy people as part of wellness screening. The core idea is that common genotypes in the genome can be used to classify which aspects of a person’s health may have the highest risk for disease, and to combine this with their clinical profiles to make informed decisions. Individuals can be encouraged and empowered to be involved in their wellness by making lifestyle changes and ultimately improve their quality of life,” says Dr Bobby Ramaisa, principal executive officer of Bonitas.

Broomberg points out that Discovery Health Medical Scheme recognises the role of genetic screening, and provides cover for a defined list of genetic screening tests such as non-invasive pre-natal screening, new-born screening and breast cancer screening.

Ramaisa reveals that there are a number of preventative DNA tests, also known as genome sequencing. These include:

  • Pre-implantation testing (testing on embryos resulting from in vitro fertilisation for high-risk couples)
  • Prenatal screening (identifies conditions in which a mutation has been identified in a parent)
  • New-born screening (testing at some point after birth to establish a diagnosis),
  • Carrier status testing (for autosomal recessive conditions)
  • Diagnostic testing (genetic testing used to support a specific diagnosis in a patient with an existing condition)
  • Predictive testing (testing of unaffected individuals who are at risk for developing conditions with a hereditable component)

Du Preez clarifies that DNA testing can refer to general DNA testing to screen individuals, or specific DNA tests in specific clinical circumstances.

Will your medical aid cover the costs?

While these are the various types of DNA testing available, Ramaisa highlights that Bonitas does not cover all of the above. “We only cover prenatal screening, which measures an unborn baby’s health, via the mother, which offers only a rough estimation of the baby’s developmental health.”

Bonitas pays for one amniocentesis per pregnancy on all of its plans, except BonCap.

Broomberg notes that Discovery Health Medical Scheme will cover clinically appropriate genetic tests from a member’s available day-to-day benefits. He adds: “The Scheme covers genetic tests that have clinically been approved.

“For individuals in whom a particular genetic condition is suspected and in whom a genetic test is needed for a diagnosis, we recommend that people ask their doctor and go through standard clinical pathways which may involve genetic counselling, specialist consultation, and possibly a specific genetic test. In these cases coverage would be based on existing benefit plans.”

Du Preez explains that at Bestmed the funding of tests is determined by a number of factors that include outcomes based studies, cost-effectiveness and existing associated treatment pathways. “An example where DNA testing is covered would be testing of foetal genetic material in high-risk pregnancies of Down’s syndrome.”

What does genetic testing cost?

There are various types of genetic testing available. Broomberg emphasises that the cost for these tests vary significantly, and as such it is not possible to provide an average cost.

Du Preez concurs that the cost various according to the test, however, he adds that in the United States the cost of overall DNA sequencing and evaluation is set at several thousand Dollars. “Specific DNA tests are much lower in cost and depend on the type of test involved.”

Ramaisa offers a few approximate costs for whole genome sequencing. “Whole genome sequencing – which maps all of an individual’s 20,500 genes – was prohibitively expensive, costing about $20,000 (R286 055) just five years ago. As of last year, the average cost of whole genome sequencing fell to $1,500 (R21 454). Whole exome sequencing costs range from $400 to $1,500 (R5 721 to R21 454), plus extra charges for analysing the results.”

Who should do DNA testing and when?

Additional research needs to be conducted with regards to obtaining consent for this type of testing, how to provide information and feedback in a meaningful way, as well as how to store and analyse genetic data.

“Parents need to be informed about the variety of information that may come from this type of testing and novel counselling approaches may need to be developed to convey this vast range of information to patients effectively and efficiently,” notes Ramaisa.

According to Broomberg, there is no one stage when these tests are appropriate. “These tests are recommended for healthy individuals at higher risk of developing specific conditions.

“For example: BRCA testing (DNA tests to identify mutations which can cause cancer) is recommended for individuals at high risk of developing breast cancer based on a strong family history, whereas non-invasive prenatal screening is typically conducted in pregnant women for assessment of the baby’s risk of having Down syndrome,” says Broomberg.

Du Preez agrees, adding that recommendations for DNA testing that have been developed with more clarity relate to specific clinical situations and diseases, this includes screening of new-borns.

What will your medical aid do if something is picked up in your tests?

Whether or not treatment will be offered or paid for depends on the medical aid, as well as what the DNA screening indicates in relation to genetic conditions and other ailments. Broomberg clarifies that these types of genetic tests are screening tests and are used for the identification of people at risk rather than those who have confirmed diseases.

“A positive screening test means that a person may require more intensive monitoring, and should they become symptomatic and the diagnosis be confirmed, then relevant therapeutic intervention would be appropriate.

“Funding of the monitoring tests and confirmatory tests will be from the appropriate benefits and will depend on the nature of the condition and the member’s chosen plan,” explains Broomberg.

According to du Preez, where DNA testing forms part of a well-defined protocol or pathway, the recommendations that follow on a positive test result are stipulated as part of the protocol. Medical schemes develop funding guidelines based on evidence-based research for those clinical entities included in their benefits. It is here that the interventions or steps that are funded are defined.

By contrast, Ramaisa states that Bonitas does not fund genome sequence testing, especially preventative gene testing. The medical scheme explains: “Gene testing is a Scheme Exclusion but if a patient has a genetic ailment that is on the PMB (prescribed minimum benefits) list then it most certainly would be covered.”

Dr Ramasia says: “As per legislation, with Bonitas you will be provided with at least the minimum treatment needed for your PMB condition. The scheme will pay costs in full for PMBs from your available benefit limits. For example, radiology services will pay from your radiology annual sub-limit. Once your scheme limits are used up for the year further services, for example as listed in your treatment plan or as clinically appropriate for your PMB condition, will continue to be paid for from a risk pool. If you need further treatment for your condition your treating doctor will need to submit clinical motivation for assessment and approval.”

Du Preez highlights: “It is important to ask your medical aid about specific diseases and problems and whether testing is covered. Communication between the medical scheme, its member and the providers of care is crucial in ensuring that all parties understand the items and services that the scheme will fund.”

DNA screening and your future health

According to Ramaisa, the long-term health management of patients who have an inherited risk for disease may involve more aggressive screening initiated at an earlier age than in the general population, counselling for lifestyle modifications, and initiation of pharmacologic or interventional preventive measures and management of related psychosocial issues.

“However, integrating this genetic sequencing information into a patient’s disease risk assessment, with the goal of ultimately improving health, is complex. Ethical, legal, and psychosocial factors have to be taken into consideration.”

Despite the benefits that preventative DNA screening may provide, Ramaisa points out that more research is needed. This includes informing patients about the variety of information that may arise from this type of testing. Specific types of counselling approaches may need to be developed to convey this vast range of information to patients effectively and efficiently.

“The most controversial aspect of genomic testing involves the amount of information that should be returned to the patient, especially if the clinical validity and utility are not fully understood,” says Ramaisa.

He adds that it is still a theory as to whether or not patients will be more likely to follow age-old advice about weight loss and smoking, with this sort of information in hand.