Lack of knowledge in genetics and genetic testing among non-geneticist doctors has been identified as a global problem in medical education. Studies have shown that there is a significant weakness among clinicians particularly in interpreting genetic tests(1,2). This would be a limiting factor in integrating genomics in to the medical practice(3).
A study in five European countries describes significant deficiencies regarding medical genetics particularly among primary care physicians. It also states the need of a coordinated European effort to improve the background knowledge on medical genetics among primary care physicians(4). Another study carried out among primary care physicians in Italy shows that the majority had inadequate knowledge regarding proper use of genetic testing(5).
With the development of the Next generation sequencing (NGS), the cost for DNA sequencing has been reduced dramatically and it has enabled us to use sequencing data in a wide range of clinical practice. It has particularly revolutionized use of genetic data in the management of Mendelian, and complex diseases including cancer as well(6–8). However level of physicians knowledge remains a barrier for delivering benefits of genomic medicine(9).
Diagnostic methods such as Array Comparative Genomic Hybridization (array CGH) and Fluorescence in situ hybridization (FISH) are being used increasingly in today’s clinical genetics practice10. Array CGH is a method of high resolution genome wide screening of segmental Copy Number Variations (CNV) used to detect unbalanced chromosomal abnormalities( 11). FISH is a technique used to identify numerical and structural chromosomal abnormalities and to determine the chromosomal location of specific sequences(12). Single nucleotide polymorphism (SNP) microarray is another versatile diagnostic technique which has many benefits other than diagnosis (13).
Awareness regarding common cancer predicting genetic tests like BRCA1/2 is generally high among physicians(14). With the advancement of our knowledge in cancer biology, use of genetic diagnostic goes beyond predicting the risk. Cancer treatments are also becoming more and more targeted and tumor specific. Gene expression data has become more important in predicting outcome of modern cancer treatments(15). Oncologists and other physicians have indicated the need of increasing genomic literacy and the need for more education about genetic testing for susceptibility of cancer (16,17).
Direct- to- consumer genetic testing (DTC-GT) is also becoming popular due to increased consumer access via internet and greater autonomy and privacy. These tests can be ordered online without a physician’s referral(18). Studies have identified the need of improving the level of awareness among general public as well as health professionals regarding DTC-GT due to potential disadvantages associated with it(19).
Genetic profiling rather than single gene testing would help to identify individuals with high risk for common complex diseases. It would be beneficial since appropriate preventive measures can be taken well before the development of the diseases (20,21). Studies have shown that there is a significant knowledge gap regarding pharmacogenomics and the need of clinically oriented educational resources especially electronic resources to fill this gap (22).
In Sri Lanka availability of clinical genetic services dates back to 1981 and genomic medicine was implemented in 2010(23). However there is a paucity of scientific evidence about physicians’ knowledge regarding different genetic diagnostic methods and their application in the clinical practice.