Frequently Asked Questions

I’d like to have my genome sequenced. Can I be sequenced at the Garvan Institute of Medical Research?

The Garvan Institute’s Kinghorn Centre for Clinical Genomics does not offer genome sequencing directly to consumers.

Our clinical sequencing services are offered through Genome.One, a wholly-owned subsidiary of Garvan. Genome.One's whole genome sequencing (WGS) tests must be requested by a medical specialist. If you are interested in having your genome sequenced for medical purposes, please discuss the processes and issues of genome sequencing with your family doctor and specialist. 

KCCG's facility also sequences cohorts of people for research purposes. With the generous support of the Kinghorn Foundation, Garvan has purchased the Illumina HiSeq X Ten Sequencing System, capable of sequencing or ‘reading’ up to 350 genomes a week, or 18,000 a year. Garvan’s acquisition massively increased the human genome sequencing capacity in Australia.

There are useful genetics resources for health professionals on the websites of the Centre for Genetics Education and the National Health and Medical Research Council.

If Garvan can’t sequence me, can you suggest someone who can?

The Garvan Institute of Medical Research does not endorse or recommend commercial products, processes or services. There are a number of commercial companies worldwide who offer medical genomic sequencing. These companies, in general, require authorisation from a qualified health professional but some offer direct-to-consumer testing.

If you are curious about genome sequencing and/or interested in the genetic tests currently available to consumers, you can find useful information on the National Health and Medical Research Council’s web site on Genetics and Human Health.

What does genome sequencing cost?

The cost and timeframe for sequencing a human genome is dramatically less than a decade ago. The first human genome sequences cost more than a billion dollars to generate, and the actual cost of sequencing a genome in 2001 was $100 million. The base cost for sequencing the 6,000,000,000 bases of a whole human genome with the Illumina HiSeq X Ten system is currently possible (at capacity) for less than $US1000. However, this costing does not include the costs involved in obtaining and preparing samples, or the costs of the still labour-intensive analysis and interpretation of the data.

The Kinghorn Centre for Clinical Genomics is currently offering research sequencing for ethically approved projects. Research project participants are not charged for genome sequencing.

The cost of clinical sequencing through Genome.One varies. Please see the Genome.One website and consult your medical specialist for details.

Are there any plans for funding genomic testing through Medicare?

New genomics technologies such as whole exome or genome sequencing offer the potential to provide diagnosis and change the management of conditions with a genetic basis.  However, effective use of new technologies requires a cohesive national collaborative approach to integrate the technology into clinical practice.

The Australian Genomic Healthcare Alliance (AGHA) is a collaboration involving Australia’s major medical research institutes, hospitals, state health departments and pathology and genetic services laboratories.  It brings together a leading multidisciplinary team of biologists, physicians, geneticists, counsellors, bioinformaticians and public health experts at the forefront of genomic medicine, cancer and rare disease research, diagnosis and treatment internationally.
 
A working group from the AGHA is considering a national approach for a proposal to fund genomic testing for appropriate conditions through Medicare.  While we believe this is the future for funding of genomic testing, this process is in its infancy.  The submission will be informed by a thorough investigation of the clinical benefit of genomic testing, a health economic analysis and expert input from members of the AGHA and other relevant stakeholders.