To date, clinical exome sequencing yielded around 25% diagnostic rate of unknown genetic diseases.
The number came from two recently published studies cited in Berg. JAMA 312(18), 2014.
The major concern in making the diagnosis remained the prior probability for each disease, which contributes directly to the false positive or false negative diagnosis of each specific condition. Also, genome-annotation remains a major challenge to all the scientists playing the roles in interpreting the results of these genome sequencing, whether it’s the whole genome or just an an exome.
The general questions that most patients would want to know include
- the diagnosis
- some explanations how the disease happened
- Anyone else in the family might be affected?
- Any treatment?
- Any future
Read more on the two cited references:
JAMA. 2014;312(18):1870-1879. doi:10.1001/jama.2014.14601.
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
JAMA. 2014;312(18):1880-1887. doi:10.1001/jama.2014.14604.