Genetics

July 2014

FocusGenetics

Genetic testing

Volume 43, No.7, July 2014 Pages 427-427

Allan J Pollack

Graeme C Miller

There have been rapid advances in genetics in recent years.1 DNA tests available on the Medicare Benefits Schedule (MBS) include HFE (haemochromatosis), Fragile X syndrome and Factor V Leiden.2

Analysis of BEACH data from April 2001 to March 2013 was undertaken to determine the proportion of general practitioner–patient encounters in Australia that involved ordering of genetic tests. Of 1,158,191 encounters, genetic tests were ordered at only 447, (38.6 per 100,000, 95% CI: 34.8–42.4). For male patients, 44.9 (38.8–51.1) per 100,000 encounters involved ordering of genetic tests, whereas for female patients, tests were ordered at 34.2 encounters (29.6–38.9). Figure 1 shows the higher proportions at encounters with patients aged 15–64 years, compared with the younger and older age groups. Figure 2 shows that the proportion was higher in 2005, compared with 2001, but no marked change has been seen since then.

Figure 1. Proportion of GP–patient encounters at which genetic testing was ordered, by age group

Figure 1. Proportion of GP–patient encounters at which genetic testing was ordered, by age group (95% CI), April 2001–March 2013

Over this 12-year period, genetic tests were ordered for only 452 of 1,777,244 problems managed. Of these 452, the most frequent diagnoses recorded were ‘haemochromatosis’, (17%, 14–21) and ‘family history of disease’(15%, 12–19).

Figure 2. Proportion of all GP–patient encounters at which genetic testing was ordered, by year

Figure 2. Proportion of all GP–patient encounters at which genetic testing was ordered, by year (95% CI)

Competing interests: None.
Provenance and peer review: Commissioned, not peer reviewed.

References

  1. National Health and Medical Research Council. Genetics in Family Medicine: The Australian Handbook for General Practitioners. Canberra: Commonwealth of Australia, 2007. Available at www.nhmrc.gov.au/_files_nhmrc/file/your_health/egenetics/genetics_in_family_mdicine.pdf [Accessed 12 May 2014].
  2. National Health and Medical Research Council. Genetics in Family Medicine: Genetics at a glance. Canberra: Commonwealth of Australia, 2007. Available at www.nhmrc.gov.au/_files_nhmrc/file/your_health/egenetics/practioners/gems/sections/genetics_at_a_glance.pdf [Accessed 12 May 2014].

Acknowledgements

The authors thank the GP participants in the BEACH program, and all members of the BEACH team. Funding contributors to BEACH from April 2001 to March 2013: Australian Government Department of Health and Ageing; AstraZeneca Pty Ltd (Australia); CSL Biotherapies Pty Ltd; Merck, Sharp and Dohme (Australia) Pty Ltd; National Prescribing Service; Novartis Pharmaceuticals Australia Pty Ltd; Pfizer Australia Pty Ltd; Abbott Australasia Pty Ltd; Janssen-Cilag Pty Ltd; Sanofi-Aventis Australia Pty Ltd; GlaxoSmithKline Australia Pty Ltd; Bayer Australia Ltd; Wyeth Australia Pty Ltd; and Roche Products Pty Ltd. BEACH is approved by the Human Research Ethics Committee of the University of Sydney.

Correspondence afp@racgp.org.au

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