PGT refers to the analysis of some or all of a person’s genome. PGT is marketed for a variety of purposes, including:
- identification of susceptibility to a wide range of diseases
- carrier screening for autosomal recessive conditions
- nutrigenomics (ie diet, nutrition, wellness)
- fitness and sporting abilities
- relationship (eg paternity) testing.
PGT companies may or may not require a health professional to order the test. In situations where a referral is not required, individuals can request a test kit online and provide a saliva or cheek swab sample to the PGT company via post. This is referred to as ‘direct-to-consumer’ (DTC) or ‘at-home’ genetic testing.
PGT companies are mostly based overseas, but an increasing number are now based in Australia.
The cost of PGT varies according to the type of test (eg genotyping, exome sequencing, whole genome sequencing) and how much information is provided with the results. PGT is not available under the Medicare Benefits Schedule (MBS), so consumers incur the full cost (sometimes thousands of dollars).
PGT results may be provided with some clinical interpretation in the form of follow-up genetic counselling or a written report, or as raw sequence data. In many situations, the consumer is left to interpret the results without clinical guidance. This can prompt the individual to contact their GP for additional support. Referral of all such patients to public genetics services for assistance is not practicable given the resource implications.1–3