Very low readability of IC forms
All of the 36 forms studied have a higher reading grade level than that recommended (by US medical schools Institutional Review Boards) for IC forms, which is, on average, a grade level of 8 (Paasche-Orlow et al. 2003). The values obtained in the SMOG calculation are higher than those from the Flesch-Kincaid. This result is expected as the SMOG formula aims to predict 100% comprehension, while the Flesch-Kincaid formula would predict only about 75% comprehension (when validated on multiple choice test) (McLaughlin 1969; Kincaid et al. 1975). Our results correspond with the relatively high reading grade levels of informed consent forms obtained by Jamal et al. (2013) and Henderson et al. (2014), which indicated the median grade level of high-school to some college in the Flesch Reading Ease formula, and median of 10.8 grade level with the Flesch-Kincaid formula, respectively (Flesch 1949; Jamal et al. 2013; Henderson et al. 2014). The word count of the IC forms we studied ranged from 204 to 3017 words, with a mean of 1679 words and median of 1489, suggesting that a person would need, at least, between 1 and 15 min to read the informed consent form content aimed at patients (assuming the pace of reading of 200 words per minute) (Bell 2001). However, given the fact that the readability of the texts studied is low, an average patient would probably need much more time to assimilate the content of an IC form. These findings are in line with those of Jamal et al. (2013), which indicate the median word count among the six studied IC forms for WES is 1154, and the range is 724 to 3429 words (Jamal et al. 2013). Both the results herein and Jamal et al.’s word count results are lower than the values obtained by Henderson et al. (2014) in a study of 9 IC forms for WES/WGS (mean = 4588 words, range 2917–5757 words) (Jamal et al. 2013; Henderson et al. 2014). This difference may be related to the fact that Henderson et al. (2014) analysed consent forms used in a research context, and these may have contained additional information such as about the study design (Henderson et al. 2014).
The results indicating low readability of IC forms are not surprising, particularly when comparing them to studies of IC forms in the context of other medical procedures (Sugarman et al. 1999). However, it is interesting that none of the forms in this study, or other previous studies investigating IC for WGS, reaches the average recommended readability level of 8th grade (Henderson et al. 2014; Jamal et al. 2013). This indicates that IC forms may fail to fulfil their intended function of providing understandable information to patients and facilitating communication. The high scores obtained in the SMOG and Flesch-Kincaid formulas indicate that the documents studied use many complex, long words, which may often be technical and therefore difficult to understand to an average reader. Indeed, some sections of IC form text were difficult to understand even for the authors; one could imagine that it would be even more complicated for a person not familiar with vocabulary used in genetics, for instance:
Diagnostic findings not related to phenotype in childhood onset conditions—a single pathogenic or likely pathogenic variant in genes that are known to cause autosomal dominant or X-linked childhood onset conditions, as well as two pathogenic or likely pathogenic variants in genes that are known to cause autosomal recessive childhood onset conditions, even if they are unrelated to the patient's phenotype, will be reported. (IC form number 18. The length of this sentence is 64 words; the score in the SMOG formula is 19).
This lack of adequate provision of information in IC forms appears particularly worrisome given that some of the companies offering WES/WGS included in this study also advertise the tests directly to consumers. In the direct-to-consumer advertising context, consumers may be provided with encouraging information about the benefits of the testing on the companies’ websites, and unless explained in the IC process, they may not be aware of all the limitations and risks of the testing (Singleton et al. 2012). The need for legible IC forms seems to be even more relevant when WGS and WES is offered to minors; if possible, consent or assent should be obtained from children when testing is offered (American Academy of Paediatrics 2013). Therefore, clear and informative content of IC forms can be very valuable in this context.
Since we hypothesized that the potentially greater presence and involvement of HCPs in designing IC forms might result in increased readability of the forms, we assigned the IC forms to two different groups, assuming that the involvement of HCPs is higher in the first group: group 1—university/hospital/medical centres and their "in-house" and/or owned laboratories; group 2—companies/laboratories not associated with a medical centre/hospital/university. Readability and word count was compared among these groups (Table 3 and Fig. 3). No statistically significant differences were found between these two IC form types with regard to readability scores and word count. These results suggest that involvement of health care professionals/genetic counsellors with experience in communication may be similar in these two groups. Indeed, the recent data indicate that an increasing number of genetic counsellors work in diagnostic laboratories (Waltman et al. 2016). The process of designing informed consent forms, including the involvement and roles of various experts may be worth investigating further.
Role of a HCP in the informed consent process
The requirement or suggestion to undergo pre-test counselling present in many forms studied, as well as the sections of text stating that a HCP has provided relevant information to the patient (which often should be signed by a HCP) seem to place an obligation on HCPs and genetic counsellors. These statements imply that the physician is responsible for ensuring that the patient is adequately informed and understands the information provided, even if the consent form is not easy to comprehend. Consequently, given the low readability of the forms and the stated obligation of a HCP to explain the relevant information, IC forms in this context may take a role of a “checklist” for a HCP indicating which elements (s)he should explain to a patient, rather than being a sole explanatory material for a patient. Indeed, a study by Bernhardt et al. (2015) showed that during pre-test counselling sessions for genomic sequencing, genetic counsellors and research coordinators modified and adjusted (depending on the context) the information provided to the patients from that presented in the IC forms (Bernhardt et al. 2015). Moreover, the study reported that genetic counsellors and research coordinators “recognized that most patients and participants cannot attend to, let alone understand, all of the information contained in the consent documents” (Bernhardt et al. 2015). Undoubtedly, the HCP’s role (and often obligation) to communicate and provide information is vital for the IC process, not only for genomic testing but in the context of all clinical procedures or tests requiring informed consent. However, considering the predictions that genomics is likely to become part of mainstream practice in medicine, WGS and WES may be increasingly offered by primary care professionals who may not yet have sufficient training or experience to be able to communicate effectively with patients about genomics (Christensen et al. 2016). In such cases, primary care professionals may be more dependent on IC forms as a communication tool to explain WGS/WES to patients. Consequently, in these circumstances, the explanatory and educational role of informed consent forms should not be underestimated.
The appropriate means of communicating about genomics in IC forms (e.g. usage of understandable vocabulary, length of document etc.) need to be explored, implemented, monitored and revised as needed. To obtain more comprehensive evaluation of the functionality of informed consent forms, additional methods, such as Suitability Assessment of Materials could be applied (Kloza et al. 2015). Furthermore, insights from health professionals who have experience in obtaining informed consent for genomic testing could help improve the quality of informed consent forms. For example, the issues indicated by genetic counsellors as most important for patients and most likely to be misunderstood could gain more attention when designing informed consent forms. In addition, reducing the length of other (potentially less relevant to informed consent) sections of IC forms such as descriptions of the technical aspects of sequencing might increase the readability of the forms (Bernhardt et al. 2015). Furthermore, investigating patients’ needs and understanding when communicating about genomics could be another important element in the effort to design adequate informed consent information (Parry and Middleton 2017).
The limitations of this study include, firstly, that the consent forms were collected at one given point of time, in one language (English) using a specific strategy aimed at finding documents available online. We acknowledge that we may have missed some documents that are currently in use but not publicly available online, and that the studied forms we found may no longer be in use. The study of additional forms in other languages than English could also be of value. Secondly, there are limitations inherent to the readability formulas used. For example, not all the (potentially) difficult words have more than two syllables (for instance “genome”). Furthermore, the readability formulas do not evaluate all the elements influencing readability, for example, graphic design, font type and size and document layout. Finally, readability and comprehension are distinctive measures. However, the SMOG and Flesch-Kincaid formulas were validated in tests aiming at evaluating comprehensibility; it has been questioned whether some of them accurately reflect comprehension (Wang et al. 2013). Therefore, the readability results only provide an estimation of comprehensibility of informed consent forms. In order to evaluate factual understanding of the documents, a study surveying patients should be conducted.