As of 2011, more than 250 health conditions can be genetically tested, and more than 27 different companies offer genetic testing services.1 Direct-to-consumer testing (DTC) is increasing in popularity and prevalence in our modern health care society.2 DTCs are genetic tests that are available to the general public, through phone or web, and are issued without the help of a health practitioner.1 Eventually, DTCs will be used to evaluate a wide variety of diseases.1 Currently they can be used to trace cancer, Alzheimer’s, diabetes, and heart disease.1,3 DTC testing has become part of a thriving healthcare marketplace.4 A variety of companies offer DTCs, like Myriad, one of the most popular product lines.4 The prevalence of DTCs is becoming controversial in health care, primarily because of the possibility of consumers misinterpreting and having trouble coping with the tests they receive, especially without any assistance.4 DTCs work by analyzing single nucleotide polymorphisms.4,5 Common techniques include karyotyping, polymerase chain reaction, and DNA sequencing and microarray.1
Given the widespread and increasing use of DTCs, it is eminent for both upcoming health professionals and consumers to be aware of the full benefits, risks, and limitations.6 One method to cope with DTC results and queries may be through the use of genetic counseling.6 Genetic counseling is the process of seeking advice from a health professional about risks and predispositions associated with genetic disorders.6 While considerable studies have been done on various aspects of DTCs, the psychological outcomes of using these services have not been widely studied.1
The goal of this review paper is to further explore the use of DTCs and evaluate the importance of genetic counseling in conjunction with them. In order to accomplish this task, this paper will cover client motivations for undergoing DTC testing and the anticipated benefits. Physician awareness of genetic testing will be explored. Further, major drawbacks and limitations will be discussed, including issues with control of DTCs. The use of genetic counseling in conjunction with DTCs will be analyzed to see the potential contribution of counseling. Along with these main ideas, psychological outcomes will be considered in regards to both DTCs and genetic counseling. Research reports as well as two review papers and two case studies were studied and consulted while writing this review.
User Motivation and Public Perception
Five main reasons were cited for consumers electing to take DTCs: health, research purposes, curiosity, genealogy and recreation.1 While the most common reasons noted health precautions, the existence of many cases primarily for recreational use calls for caution and evaluation.1 DTCs are stressful in their nature, but without understanding the implications or taking the test seriously, unexpected results can lead to even further anxiety.2 Two types of consumers were identified in...