In recent years, rapid and continuing advances in our knowledge and interpretation of information on the human genome have transformed our understanding of human health, medical diagnostics, and therapy. Accessing information on genetic material is now quicker, cheaper, and more widespread than at any other time in our history. As innovations and discoveries involving human genetic material continue, there will be an ongoing necessity to carefully integrate advanced genomic medicine (AGM), including personalised genetic diagnostics and intervention, into the wider community. AGM offers the potential of personalised genomic profiling that enables the diagnosis of disease and targeted treatment, yet despite the advantages of such technology, there are issues with accurate diagnosis and interpretation of data. Even experts struggle with the complex nature of the data that is currently gathered.1,2
In parallel to AGM, the general public are already sending saliva samples to explore their genetic makeup using the Internet through companies and websites like 23andMe (https://www.23andme.com), usually without clinician involvement. They are also sharing their health experiences through websites such as PatientsLikeMe (www.patientslikeme.com).Medical professionals who are already coming to terms with the availability of an increasing number of genetic-based screening tests may now be confronted with an engaged, informed public who are both requesting and presenting medical professionals with a multitude of data about their genetic profile; similarly, an increasing number of screening tests and diagnostic procedures involving genetics are being used in clinical settings. As the science and technology behind AGM continues to grow, so too will the urgency to ensure the successful transfer of this technology from bench top to bedside—from scientific discovery to practical application. The development and application of new techniques and ideas will need to be carefully addressed by considering a whole-of-system approach as scientists, the medical fraternity, and the public come to terms with this new technology.3 Both the medical profession and the public have high expectations of AGM; however, many potential barriers are already visible, including cultural, ethical, educational, legal, and social implications, and if these are not addressed successfully, such issues could potentially limit the growth of this exciting field.
[1]
W. G. Feero,et al.
Clinical application of whole-genome sequencing: proceed with care.
,
2014,
JAMA.
[2]
V. Cameron,et al.
Risk-taking: behind the warrior gene story.
,
2007,
The New Zealand medical journal.
[3]
H. Greely,et al.
The Henrietta Lacks legacy grows
,
2013,
EMBO reports.
[4]
C. Print,et al.
Clinical decision support systems: should we rely on unvalidated tools?
,
2011,
ANZ journal of surgery.
[5]
Michelle M Mello,et al.
The Havasupai Indian tribe case--lessons for research involving stored biologic samples.
,
2010,
The New England journal of medicine.
[6]
H. Blum,et al.
Clinical Interpretation and Implications of Whole Genome Sequencing
,
2014
.
[7]
L. Keogh,et al.
Life insurance and genetic test results: a mutation carrier's fight to achieve full cover
,
2013,
The Medical journal of Australia.