Embryo genetic tests still unavailable eight months after legal changes

Genetic testing on embryos for hereditary diseases is still unavailable at Mater Dei Hospital eight months after the law was changed, MaltaToday has learnt.

Pre-implantation genetic testing on embryos as part of the in-vitro fertilisation treatment was overwhelmingly approved by parliament in July 2022. The legal changes allow doctors to test embryos for monogenic disorders in cases where the couple has a known family history of hereditary genetic disease.

But the Health Ministry has now confirmed that PGTM is not yet available because the purchasing of the necessary laboratory equipment is still underway.

“After the legal changes were approved in July 2022, several tenders for the purchasing of the necessary equipment, in line with government procurement regulations, were issued so that PGTM and embryo biopsies could be carried out at the ART Clinic at Mater Dei Hospital,” the ministry said. It added that the procurement process is at “an advanced stage”.

The ministry said that the introduction of PGTM also requires changes to the laboratory and these preparations are also at “an advanced stage”.

No timeframe was given for when the ART Clinic will be able to start offering the PGTM service.

The ministry did not say what options were being offered to couples who may need PGTM during this period.

Embryo genetic testing was promised by the Labour Party in its electoral manifesto and the legal changes were approved within the first 100 days in government.

The National Party ping ponged on PGTM, first opposing its introduction but later voting in favour when government accepted to include polar body testing (PBT) on female oocytes as an option for those with a moral objection to PGT.

Three Opposition MPs dissented and voted against – Adrian Delia, Alex Borg and Ivan Bartolo – while a fourth, Carm Mifsud Bonnici could not be present for the vote but announced he had moral objections to the law.

The law introduced pre-implantation genetic testing for nine hereditary diseases, allowing doctors to choose only healthy embryos for transfer into the woman’s womb. Defective embryos will be kept frozen.

The nine hereditary diseases are included in a protocol, but the Embryo Protection Authority can consider adding others following discussions with patients seeking IVF treatment and the clinical team involved.

Current legislation allows doctors to test embryos for the following diseases and conditions: Finnish Nephrotic Syndrome, Gangliosidosis, Huntington Disease, Joubert Syndrome, Maple Syrup Urine Syndrome, Nemaline Myopathy, Spinal Muscular Atrophy, Tay-Sachs Disease, and Walker-Warburg Syndrome.