1️⃣ Our knowledge of all the strong signals in the human genome is in fact increasing steadily. As a consequence of the continuing new discoveries, although a person’s genome may not reveal obvious strong signals on first analysis, part of the value of genomics is that data can be stored and analyzed as knowledge accrues, or as more patients with similar phenotypes are identified.
2️⃣ while many inherited genetic conditions are individually rare, they are common in aggregate; approximately 3-5% of infants are recognized as having genetic disorders and/or birth defects that may involve genetic factors [McIntosh et al., 1954; Centers for Disease and Prevention, 2008]. To the counterargument that whole-genome sequencing should be used only when a disorder of possible genetic cause is evident, many genetic conditions are not recognizable at birth, such that ∼8% of people are found to be affected by early adulthood [Baird et al., 1988].
3️⃣ In summary, the availability of genomic information can be used to extract strong signals immediately and be stored for future detection of newly discovered strong signals. Furthermore, genetic information can also be a key to understanding the causes of health and disease.
THE BENEFITS OF WHOLE-GENOME SEQUENCING NOW AND IN THE FUTURE
[By Celebre Pro Medic Sdn Bhd 20220311]