Genetics General

Specific clinical scenarios

• Unaffected individual with a family history of a genetic diagnosis, where a specific gene mutation/chromosomal anomaly has NOT been identified in a blood relative.

A genetic diagnosis must be confirmed (via genetic testing) in an affected relative to provide accurate genetic counselling to unaffected relatives. Referral of an affected relative to a clinical genetics service is recommended in the first instance.

Exceptions:

• There is DNA stored from a deceased affected relative.

Please refer the unaffected at-risk individual AND the next of kin of deceased affected relative.

• The genetic diagnosis in the family is caused by a specific mechanism in a single gene.

Please refer to UNAFFECTED blood relative of an individual with a genetic disorder caused by a specific mechanism in a single gene (predictive/pre-symptomatic testing) within the Genetics CPC.

• Unaffected individual with a family history of a condition which is likely to be multifactorial (i.e. not due to a single genetic factor) AND where a specific gene mutation has NOT been identified in a blood relative. Examples of conditions include:
  • dementia (late onset)
  • motor neuron disease (late onset)
  • Parkinson disease (late onset)
  • diabetes
  • inflammatory bowel disease.
• Individual with a personal and/or family history of Ehlers Danlos syndrome type 3 / hypermobility / joint laxity, who does NOT have DOCUMENTED evidence of at least one of the red flag signs which may trigger a referral to clinical genetics (as assessed by a medical specialist).

Documented evidence of one of the red flag signs should be included in a referral.

Please see the relevant information fact sheet on the GHQ website.

• Individual with a personal and/or family history of one of the following conditions:
  • Factor V Leiden thrombophilia
  • Haemochromatosis.

Please see the relevant information fact sheet on the GHQ website.

• Individual with hypercholesterolaemia who does NOT meet one of the following criteria:
  • Dutch Lipid Clinic Network Score of at least 6
  • LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes
  • LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis.

Documented evidence of one of the above should be included in a referral.

• Individual with autism spectrum disorder (severity level 1 or 2) and/or ADHD who does NOT have at least one of the following additional features that could suggest a genetic diagnosis:
  • intellectual disability (≥ moderate level in severity)
  • congenital anomalies
  • epilepsy
  • micro/macrocephaly
  • dysmorphic features
  • abnormal chromosome microarray test or other genetic test.
• Individual with a neural tube defect who does NOT have at least one of the following additional features that could suggest a genetic diagnosis:
  • developmental delay (≥ moderate level in severity)
  • intellectual disability (≥ moderate level in severity)
  • other congenital anomalies
  • epilepsy
  • micro/macrocephaly
  • dysmorphic features
  • abnormal chromosome microarray test or other genetic test.

Please see the relevant information fact sheet on the GHQ website.

Carrier status for autosomal recessive disorders

• Individual who is a confirmed carrier of an autosomal recessive disorder on genetic testing AND their reproductive partner is NOT a carrier of the same autosomal recessive disorder on genetic testing. Please see the relevant information fact sheet on the GHQ website.
• Individual who is suspected to be a carrier of a haemoglobinopathy on haemoglobin electrophoresis studies AND their reproductive partner is NOT suspected to be a carrier of a haemoglobinopathy on haemoglobin electrophoresis studies. Please ensure both individuals have had haemoglobin electrophoresis studies. Please see the relevant information fact sheet on the GHQ website.
• Individual who has an ethnic-specific population risk of lower than 1 in 50 of being a carrier of a specific autosomal recessive disorder AND their reproductive partner is a confirmed CARRIER of the same autosomal recessive disorder on genetic testing. Please see the information fact sheet on the GHQ website.
• Individual who has an ethnic-specific population risk of lower than 1 in 100 of being a carrier of a specific autosomal recessive disorder AND their reproductive partner is confirmed to be AFFECTED with the same autosomal recessive disorder on genetic testing. Please see the relevant information fact sheet on the GHQ website.

Reproductive genetics

• A pregnancy in which there is an abnormal non-invasive prenatal test (NIPT) and/or high risk combined first trimester screening (CFTS) BUT a diagnostic prenatal genetic test (i.e. chorionic villus sampling and/or amniocentesis) has NOT been performed yet. Please see the relevant information fact sheet on the GHQ website.

• Individual and their reproductive partner have had recurrent miscarriages AND a karyotype chromosome test has not identified a chromosome anomaly in either person.

Non-clinical genetic testing

• Individual who has had or is considering genetic testing of the MTHFR gene.  Please see the relevant information fact sheet on the GHQ website.
• Individual who has had or is considering ‘direct to consumer’ genetic testing. Please see the relevant information fact sheet on the GHQ website.
• Individual who has had or is considering genetic testing relating to paternity.

Other

• Individual who is NOT a resident of Queensland. Please refer to a local clinical genetics service in the relevant state or territory using the Genetic Services Finder.
• Individual who is NOT Medicare eligible (except where organisational exceptions are in place).