Traditionally, carrier screening panels have focused on screening for a limited number of conditions. Recently, some direct-to-consumer genetic testing companies have started advertising expanded carrier screening panels aimed at screening for multiple recessive conditions in a single test. We believe that in the near future the number of conditions on screening panels will continue to grow. Furthermore, as the cost of gene sequencing further declines while the technical performance of the tests consistently improves, it is likely that in the near future genome/exome sequencing will be employed as a primary tool for carrier screening.
As the screening technologies become increasingly advanced, important ethical questions will rise as to selecting recessive disorders for screening. For example, inclusion of milder forms of a disease, treatable disorders, or rare and insufficiently understood conditions may prove particularly challenging. Moreover, improving technology to accurately predict a phenotype in offspring may potentially result in a heated societal debate over eugenics and desirability of having children without any health problems. These concerns will further be fueled by prospective parents' wish to avoid birth of affected children, leading to a wider adoption of population carrier screening programs.
Based on the current experience, it is likely that DTC genetic testing companies will continue providing carrier testing services for progressively many recessive conditions in the out-of-hospital setting. Adequate provision of information and counseling in order to allow autonomous reproductive decision-making will become even more challenging. In the light of these concerns, it is important that more attitudinal studies are carried out to assess views of different stakeholders on DTC genetic testing.
In addition, we hope that the healthcare services keep up with the technological developments and start offering carrier screening tests for a select number of recessive disorders. However, this will require successful integration of genetics services into clinical care as well as education of physicians and other healthcare providers on genetic testing.
Finally, despite improving treatments for CF, we expect that the condition will continue to present significant problems to the affected individual's health. Because of this, it is probable that carrier screening for CF will become more widely acceptable and CF will be included on most carrier screening tests in the next 5–10 years.
Ethical conduct of research
The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.
Personalized Medicine. 2015;12(2):99-107. © 2015 Future Medicine Ltd.