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Keywords:

  • incidental finding;
  • whole genome sequencing;
  • whole exome sequencing;
  • clinical context

Abstract

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

Whole exome or whole genome analysis using massively parallel sequencing technologies will undoubtedly solve diagnostic dilemmas; however, incidental findings (IF) that may have medical and social implications will also be discovered. While there is consensus in the literature that analytically valid and medically actionable IF should be returned to patients if requested, there is debate regarding the return of other IF. There are currently no guidelines established for managing IF in the clinical context. We therefore distributed an online questionnaire to 496 geneticists and genetic counselors in Canada to explore this unresolved issue, and 210 professionals participated (response rate = 42%). The proportion of respondents who indicated that they would return IF to patients depended on the nature of the finding, ranging from 95% for information pertaining to a serious and treatable condition to 12% for information with only social implications (e.g., non-paternity). There was a lack of consensus around the disclosure of certain IF such as genetic carrier status, especially for pediatric patients. The most important considerations identified as impacting IF disclosure included condition-specific factors such as treatment availability, test accuracy, and evidence indicating pathogenicity. This is the first study to document the views of geneticists and genetic counselors in Canada towards the disclosure of IF, and represents a step towards evidence-based guidelines for clinical genome-wide sequencing investigations. © 2013 Wiley Periodicals, Inc.


INTRODUCTION

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

Whole genome or whole exome sequencing using massively parallel technologies can uncover variants underlying genetic conditions at an unparalleled cost and efficacy compared to other genetic technologies [Tucker et al., 2009; Ashley et al., 2010; Gonzaga-Jauregui et al., 2012]. In addition, genetic variants will be discovered that may have important medical or social implications that are unrelated to the indication for testing, called incidental findings (IF) [Kohane et al., 2006; Wolf et al., 2008]. There are currently no guidelines established in Canada for managing IF in the context of clinical sequencing.

Whole genome or whole exome sequencing investigations will inevitably discover IF. For example, it is estimated that each human genome contains about 300 single nucleotide variants that are predicted to impact protein function, 100 of which are loss-of-function variants [MacArthur et al., 2012; Tennessen et al., 2012]. By 2015, it is estimated that there will be more than 15,000 published disease-associated variants [National Heart, Lung, and Blood Institute working group et al., 2010; Cassa et al., 2012]. Full disclosure and non-disclosure policies are not appropriate for handling this multitude of genetic IF [Ravitsky and Wilfond, 2006; McGuire and Lupski, 2010]. Full disclosure is simply not feasible, being too laborious and time consuming for current clinical practice, and non-disclosure is not ethically defensible because IF may have serious medical implications [Ravitsky and Wilfond, 2006; Knoppers et al., 2006; McGuire and Lupski, 2010; Sharp, 2011; Thorogood et al., 2012]. Therefore, an intermediate policy must be developed to prioritize IF and guide clinicians with disclosure decisions.

Guidelines for IF originated in the field of radiology and have since emerged in whole genome chromosomal microarray testing and in the genetic research setting [Booth et al., 2010; Kearney et al., 2011; Wolf et al., 2012]. There is growing consensus that researchers and clinicians bear a responsibility to return analytically valid, clinically significant, and medically actionable IF to research participants and patients, if practically possible [Caulfield et al., 2008; McGuire et al., 2008; Richardson, 2008; Wolf et al., 2008]; however, whether other kinds of IF warrant return or should be provided to patients who request them is debated. Berg et al. [2011] suggest a “binning” system where clinically actionable IF are reported regardless of patient preference, clinically valid but not directly actionable IF are reported depending on patient preference, and results of unknown significance are not reported due to the practical constraints of clinical practice. This system is similar to other described approaches for chromosomal microarray and exome sequencing investigations in the research setting [Netzer et al., 2009; Mayer et al., 2011].

There has been very little empirical research conducted in this area. When asked how IF should be managed, Townsend et al. [2012] found that the members of the lay public emphasized the importance of patient autonomy and empowerment, while the genetics professionals believed that the return of IF to patients should be limited due to available resources and the potential to burden patients. A recent study conducted in the United States surveyed 16 geneticists regarding the disclosure of 99 examples of IF from clinical sequencing and showed discordance among the professionals, indicating a need for broader study [Green et al., 2012].

Currently described approaches for managing IF are neither informed by empirical data nor necessarily representative of the viewpoints of the broad genetics community. Therefore, we conducted a survey to ascertain the perspectives of geneticists and genetic counselors in Canada towards the disclosure of IF from clinical sequencing investigations. As it is impractical to discuss every locus with a patient, we organized IF into discrete categories along a spectrum from serious and treatable conditions to information with social implications. We asked genetics professionals their views on whether these IF should be disclosed to pediatric or adult patients, and about the factors impacting disclosure decisions.

MATERIALS AND METHODS

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

Questionnaire Development

The questionnaire was developed after review of the literature on genetic IF, and after the qualitative analysis of a focus group designed to elicit opinions of geneticists and genetic counselors (n = 10) on the return of IF to patients [Townsend et al., 2012]. A panel of genetics professionals (n = 11) pre-tested the questionnaire through an online evaluation. The resulting questionnaire was comprised of three parts: (i) demographic information; (ii) knowledge of whole genome sequencing; and (iii) attitudes towards the disclosure of various incidental findings (see Supplementary Material in Supporting Information Online). After two of the questions, open-ended text boxes were included to give respondents opportunities to elaborate on selected answers. The questionnaire was available in both English and French.

Data Collection

The cross-sectional online survey was conducted in November and December 2011. Members of the Canadian College of Medical Geneticists (CCMG) or Canadian Association of Genetic Counsellors (CAGC) with valid email addresses were invited to participate. CCMG members received the link to the questionnaire by a personal email, whereas CAGC members received the questionnaire via an email facilitated by the CAGC. The initial invitation was followed by two subsequent reminder emails, 2 weeks apart. Respondents were eligible to enter a draw for two $75 Amazon.ca® gift cards. The Research Electronic Data Capture (REDCap) survey tool was used to format the questionnaire, collect the data, and store the results [Harris et al., 2009]. The Institutional Review Board at the University of British Columbia approved this study.

Data Analysis

Chi-square (χ2) tests with Yates' correction for continuity were conducted to compare response rates between groups. Spearman's Rho (ρ) Correlation Coefficient was used to explore relationships between groups. Text responses from open-ended questions were annotated in short sections (1–2 sentences) by at least two researchers independently for codes, which were then discussed among the researchers to identify predominant themes. Main themes emerged based on descriptive analysis [Neergaard et al., 2009].

RESULTS

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

Response Rate

A total of 496 genetics professionals in Canada were invited to complete the questionnaire, including 231 geneticists and 265 genetic counselors. Our response rates were 49% for geneticists (n = 114) and 36% for genetic counselors (n = 96), for an overall response rate of 42% (n = 210).

Respondent Characteristics

Demographic features are summarized in Table I. Geneticists from Western Canada were over-represented in our pool of geneticist respondents in comparison to the CCMG directory (P = 0.01; χ2 = 8.84). There was no significant difference between the reported geographic location of practice of the genetic counselor respondents and the CAGC directory (P = 0.4; χ2 = 1.68).

Table I. Demographic Items for Study Respondents (n = 210)
 Genetic counselors (%)Geneticists (%)Total (%)
  • a

    A text box allowed those who selected the “Other” category to describe their career; responses included pediatrician, consultant, pathologist, professor, and nurse.

  • b

    A text box allowed those who selected the “Other” category to describe their specialization; responses included education, newborn screening, public health, psychiatric genetics, and genetic counseling program directing.

  • c

    British Columbia, Alberta, and Saskatchewan.

  • d

    Manitoba, Ontario, and Quebec.

  • e

    Newfoundland and Labrador, New Brunswick, Nova Scotia, and Prince Edward Island.

Gender
 Male5 (5)46 (40)51 (24)
 Female90 (94)61 (54)151 (72)
 Prefer not to specify1 (1)7 (6)8 (4)
Language
 English91 (95)109 (96)200 (95)
 French5 (5)5 (4)10 (5)
Career
 Genetic counselor86 (90)0 (0)86 (41)
 Clinical geneticist0 (0)55 (48)55 (26)
 Laboratory geneticist0 (0)48 (42)48 (23)
 Othera10 (10)11 (10)21 (10)
Specialization
 Adult genetics22 (23)2 (2)24 (11)
 Pediatric genetics8 (8)22 (19)30 (14)
 Prenatal genetics13 (14)3 (3)16 (8)
 Laboratory genetics1 (1)47 (41)48 (23)
 Otherb30 (31)33 (29)63 (30)
 No specialization22 (23)7 (6)29 (14)
Location of practice
 Western Canadac34 (35)50 (44)84 (40)
 Central Canadad49 (51)51 (45)100 (48)
 Eastern Canadae11 (12)11 (10)23 (10)
 Prefer not to specify2 (2)2 (1)4 (2)
Years of practice
 0–2 years33 (34)13 (11)46 (22)
 3–5 years18 (19)13 (11)31 (15)
 6–10 years15 (16)23 (20)38 (18)
 11–20 years18 (19)31 (28)49 (23)
 >20 years11 (11)34 (30)45 (21)
 Prefer not to specify1 (1)0 (0)1 (1)

Knowledge of Genomic Sequencing Technologies

The respondents self-rated their knowledge of massively parallel sequencing technologies and the application of these sequencing technologies to clinical practice on scales of 1–5, where 1 = a little knowledge and 5 = a lot of knowledge. The majority of geneticists (64%) and almost half the genetic counselors (45%) reported scores of 4 or 5 for knowledge of newer sequencing technologies. A small proportion of geneticists (7%) and genetic counselors (10%) reported scores of 1 or 2 for knowledge of newer sequencing technologies. There was no significant difference between the geneticists and genetic counselors in terms of their perceived knowledge of sequencing technologies (P = 0.2; χ2 = 5.5). However, significantly more geneticists (54%) than genetic counselors (20%) stated that they had a lot of knowledge (scores of 4 or 5) regarding the application of genome-wide technologies to clinical practice (P < 0.001; χ2 = 29.2); almost half the genetic counselors (44%) as compared to some of the geneticists (11%) reported low knowledge scores (scores of 1 or 2). There was no association between knowledge of genome-wide sequencing technologies and years of practice for either the genetic counselors or the geneticists (Spearman's ρ = 0.02, P = 0.9, Spearman's ρ = 0.03, P = 0.7, respectively).

Factors Affecting Disclosure

We asked respondents to select three factors from a list of seven that would most impact their decision to report IF (Fig. 1). The responses provided by the geneticists and genetic counselors were similar, so their data are presented together. More than half of the respondents considered condition-specific factors (e.g., disease severity, age of onset, and treatment availability), the accuracy of the test, and the evidence indicating pathogenicity as most influential to their decision to disclose IF. Some (n = 16) respondents indicated that none of the seven factors would influence their decision to disclose IF.

thumbnail image

Figure 1. Factors affecting the decision to disclose an incidental finding.

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An open-ended text box provided the respondents with the option of describing an additional factor, not included in the list of seven factors; some (n = 63) respondents provided an additional factor. The majority of these responses (n = 41) identified the importance of pre-test counseling to establish patient preferences for disclosure of IF. One respondent's comments illustrate this predominant theme: “An additional factor is what was decided in pre-test counseling. In ordering whole exome or genome sequencing, I think it would be very important to establish what the parent/patient's wishes are and to make sure that ethically we would be able to abide by them.”

A range of other factors influencing disclosure decisions were identified, including the actionability of the result (n = 2), whether the finding was confirmed through a second validated method (e.g., Sanger sequencing; n = 2), social factors such as stigma (n = 1), family history (n = 1), and ethical or legal implications of result disclosure (n = 1). Three respondents stated that all IF should be disclosed to patients because it would be wrong to withhold information that would be in the patients' medical records. For example, “It is not our role to withhold information but instead to make this information accessible and understandable to our patients. Once reported, it becomes part of those patients' medical records and therefore information they are entitled to have.” The remaining responses (n = 12) elaborated on the seven factors presented initially.

Reporting Genomic Incidental Findings

Respondents were asked whether eight different types of IF should be included, sometimes included, or excluded from laboratory reports and discussion of results with the patient (Table II). Respondents provided separate answers for pediatric and adult patients.

Table II. The Percentage of Respondents (n = 207) Indicating Whether Eight Incidental Findings Should Be Included (I), Sometimes Included (S) or Excluded (E) From Laboratory Reports and Discussion of Results With the Patient
 Pediatric patientAdult patientPediatric versus adult patient
ISEP-valuecISEP-valuecP-valuec
  • NS, not statistically significant.

  • a

    PKU, phenylketonuria.

  • b

    SMA, spinal muscular atrophy.

  • c

    Chi-square test.

  • *

    P < 0.01.

  • **

    P < 0.001.

Serious and treatable (e.g., cystic fibrosis, PKUa)9640**9460**NS
Pharmacogenetic information (e.g., warfarin)70237**75223**NS
Serious and untreatable (e.g., SMAb, Huntington disease)404515**57403****
Carrier status for recessive conditions (e.g., Thalassemia)403426NS73261****
Adult-onset (e.g., breast cancer)303832NS67312****
Risk for a multifactorial condition (e.g., diabetes)323731NS414118**
Information of unknown significance284131NS294625NSNS
Social implications (e.g., ancestry, paternity, and incest)104644**134839**NS

Generally, there were no significant differences between the responses provided by the geneticists and genetic counselors, and, therefore, their data are presented together (see Supplementary Material eTable I in Supporting Information Online); however, there were two exceptions. First, significantly more geneticists (48%) than genetic counselors (31%) indicated that information pertaining to a condition that is serious and untreatable for a pediatric patient should be included (P = 0.02; χ2 = 7.1); there was no statistical difference between the number of geneticists (60%) and genetic counselors (53%) who indicated that they would include this information for an adult patient. Second, significantly more geneticists (49%) than genetic counselors (28%) indicated that information with social implications (e.g., ancestry, non-paternity, and incest) for an adult patient should be excluded (P = 0.004; χ2 = 10.9); there was no statistical difference between the number of geneticists (50%) and genetic counselors (36%) who indicated that they would exclude this information for a pediatric patient.

The responses provided by the clinical geneticists did not differ from the laboratory geneticists with two exceptions (see Supplementary Material eTable II in Supporting Information Online). First, significantly more laboratory geneticists (50%) than clinical geneticists (24%) indicated that information pertaining to a multifactorial condition should be excluded for a pediatric patient (P = 0.002; χ2 = 8.02); there was no statistical difference between the proportion of laboratory (35%) and clinical geneticists (15%) who indicated that they would exclude this information for an adult patient. Second, significantly more laboratory geneticists (65%) compared to clinical geneticists (40%) indicated that information with social implications should be excluded for adult patients (P = 0.04; χ2 = 6.22); there was no statistical difference between the number of laboratory (58%) and clinical geneticists (48%) who indicated that they would exclude this information for a pediatric patient. In regards to relationships between demographic variables, there were no apparent trends among responses in terms of gender, location of practice, or years of practice.

The majority of professionals indicated that they would report information for serious and treatable conditions and information pertaining to pharmacogenetic variants for both pediatric and adult patients (Table II). The professionals indicated that they would be less likely to disclose information with social implications, information of unknown significance, or information indicating risk for a multifactorial condition. One respondent indicated that IF should not be disclosed to patients at all.

There were significant differences between the responses provided for a pediatric and adult patient for the following IF: a serious and untreatable condition (P ≤ 0.0001; χ2 = 19.58), carrier status (P ≤ 0.0001; χ2 = 67.3), an adult-onset condition (P ≤ 0.0001; χ2 = 89.5) and a multifactorial condition (P = 0.002; χ2 = 9.21; Table II). In all of these instances, more professionals indicated that they would include these IF in the case of adult patients than pediatric patients. For pediatric patients specifically, there was a lack of consensus for certain IF as there was no significant difference between the number of professionals who indicated that they would “include” or “exclude” the following IF in patient records or discussion of results with the patient (Table II): carrier status (P = 0.085; χ2 = 2.96), an adult-onset condition (P = 0.802; χ2 = 0.063), a multifactorial condition (P = 0.095; χ2 = 0.0033), information of unknown significance (P = 0.79; χ2 = 0.065; Table II). For adult patients, there was no significant difference between the number of professionals who indicated that they would “include” or “exclude” information of unknown significance (P = 0.423; χ2 = 0.6433; Table II).

The respondents were provided with the option of including comments in an open-ended text box to elaborate on their answers for this section; almost half (n = 100) of the participants provided comments. The strong central theme identified by the majority of respondents (n = 52) was the importance of the consent process where patients “opt” in or out of the return of IF through a “tiered consent” model. One respondent noted: “I think one of the most important factors is the pre-test consent. Patients have the right to choose if they would like to obtain information about themselves above and beyond information about the pertinent clinical question. The types of results should be explained to the patient who can then decide what they want or don't want to know.” Some respondents described a formal consent process where choices are “documented” and “signed” prior to testing to prevent “surprises.” One professional suggested following “a similar pattern than that given for patients going for testing for Huntington disease, with a waiting period between counseling and actual testing.”

While the professionals supported patient choice, some (n = 19) also indicated an obligation to report certain findings that are “actionable” with “immediate medical benefit to knowing”: for example, “the overriding factor is whether it is treatable. If it is then yes, I would disclose. For all the other incidental findings, I would hope to have a frank discussion with the patient before they proceed with testing and tell them that this test can reveal incidental findings. I would give them examples and I would have them tell me, even put in writing, what they do and do not wish for me to disclose.”

Some (n = 17) respondents were concerned about the pediatric “loss of autonomy” if certain IF are disclosed that are not necessarily relevant in childhood: “the child's best interests need to be weighed against the decision-making authority we have traditionally granted parents.” A means to “store” specific genetic information for later release for pediatric patients was suggested as a solution: “for pediatric patients, genetic information about risk for adult onset disorders should be left for future discussions when they are young adults.”

Patient Choice

When asked whether families should be given a choice as to which kinds of IF are returned to them, the majority of genetic counselors (84%) and geneticists (79%) indicated that families should be given a choice; only 4% of genetic counselors and 8% of geneticists did not believe that families should be given a choice; the remaining respondents (12–13%) were unsure.

DISCUSSION

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

This is the first study to report the attitudes of geneticists and genetic counselors in Canada towards the disclosure of IF from clinical whole genome or whole exome sequencing investigations. As genome-wide sequencing is beginning to be applied to clinical investigations, the imperative to develop evidence-based clinical practice guidelines for these technologies grows.

The genetics professionals in this study perceived three factors as most important for the decision to disclose an IF: condition-specific factors, the accuracy of the test, and the evidence indicating pathogenicity. These factors reflect criteria outlined by Bredenoord et al. [2011] to determine whether genetic results should be returned to research participants: clinical utility, analytical validity, and clinical validity. Similarly, Haga et al. [2011] reported three factors that would influence whether the lay public wanted to learn of genetic IF: disease severity, intervention availability, and test validity. Interestingly, the lay public and genetics professionals appear to use the same principles to determine whether an IF is worthy of disclosure.

The majority of genetics professionals in this study indicated that IF pertaining to serious and treatable conditions and pharmacogenetic information should be disclosed for both pediatric and adult patients. In contrast, there was less support for the disclosure of IF with unknown significance, social implications, or indicating risk for a multifactorial condition. These findings are consistent with the consensus that the imperative to disclose is strongest for IF with immediate medical benefit [Berg et al., 2011].

A major finding was that while most professionals would consider disclosing carrier status, information for adult-onset conditions, serious and untreatable conditions and multifactorial conditions for adult patients, the professionals were less likely to disclose this information for a pediatric patient. Further, the professionals were divided as to whether to disclose carrier status, information for an adult-onset condition, multifactorial conditions and information of unknown significance for a pediatric patient. These findings are consistent with a recent study, which showed that geneticists more strongly supported the disclosure of IF to adult patients than pediatric patients [Green et al., 2012]. The majority of professionals in the current study indicated that they would want patient preferences to play a role in disclosure decisions; however, there were concerns raised about maintaining pediatric autonomy for IF that are not relevant in childhood. Hens et al. [2011] state that information that is not actionable in childhood should not be revealed to parents because this may cause undue anxiety and take away the child's right to an “open future.” Some professionals in the current study suggested that result disclosure be delayed until the patient has reached adulthood.

Restricting parents' access to their children's genetic information is counter to parent preferences for result disclosure. Parents have indicated that they want genetic information for their children indicating a risk for common diseases, adult-onset diseases and diseases lacking treatment options [Bradbury et al., 2008; Tarini et al., 2009; Tercyak et al., 2011; Harris et al., 2012; Townsend et al., 2012]. As such, at least one exome sequencing center allows parents to make IF disclosure decisions for pediatric testing [Mayer et al., 2011]. Providing unrestricted parental autonomy may go against current practice standards for pediatric genetic testing. Practice guidelines state that pediatric genetic testing is justified when results alter medical management to reduce morbidity or mortality [Borry et al., 2006]. Therefore, presymptomatic and predictive testing is not generally supported in the pediatric population because this compromises pediatric autonomy and privacy while increasing the risk for discrimination and psychological harm.

Information pertaining to a serious but untreatable condition such as Huntington disease represents a unique case owing to a lack of available preventative measures. Most centers do not currently offer presymptomatic genetic testing to pediatric patients for Huntington disease [International Huntington Association and the World Federation of Neurology Research Group, 1994], so it was surprising to find that professionals in this study indicated that they would disclose this information to both pediatric and adult patients.

This example of a serious but untreatable condition highlights the importance of the consenting process prior to testing where the patients can explicitly state their choices for result disclosure and exercise the “right not to know” [Knoppers et al., 2006; Rothstein, 2006]. The professionals in this study described a more formal consent process to document patient choices for clinical genome-wide sequencing than what is required for most genetic tests today. Developing a valid consent model for genome-wide sequencing technologies will be difficult, as it will require maintaining the integrity of patient autonomy while balancing clinical obligation [Bunnik et al., 2011].

Study Limitations

These data have a number of limitations. While the survey had a 42% response rate, the sample may not be representative of the opinions of geneticists in Canada because the geographic distribution differed from that expected. Differences between French and English populations were not assessed, and differences between ethnic groups or other subsets were not considered. The scenarios were artificial in that they did not include the indication for genome-wide sequencing, symptomology, family history, or patient and family preferences for result disclosure. Future studies should include more detailed clinical scenarios. A large number of comparisons were performed, and thus some of the nominally significant differences almost certainly occurred by chance alone. Finally, as genomic technology matures and becomes more routine in the clinical setting, opinions surrounding these issues may change.

Implications for Practice

This study presents the viewpoints of the medical genetics community in Canada towards an important issue in clinical genetics, that is, the management of IF arising from clinical genome-wide sequencing. The genetic counselors and geneticists were largely in agreement that actionable IF should be readily disclosed to patients while other IF should not be readily disclosed, congruent with the views of others in the field [Berg et al., 2011]. Perhaps more importantly, the pre-test informed consent process was emphasized as being instrumental in documenting patient choices towards IF disclosure. Collectively, these findings suggest that policy makers may consider stratifying IF to guide clinicians, and incorporate patient choice into practice standards, as also noted by Townsend et al. [2012]. This may require modifying current informed consent paradigms. Notably, these data also suggest that different IF disclosure policies may be considered for pediatric and adult patients to maintain pediatric autonomy. Overall, these data show a growing consensus among genetics professionals, which could be applied to develop evidence-based practice standards for the management of IF within Canada and potentially abroad as well.

CONCLUSIONS

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

This study contributes to the body of literature investigating the incorporation of genome-wide sequencing technologies into clinical practice. While these technologies will be powerful tools for genetic diagnosis, the management of IF is controversial. Our findings indicate that there is growing consensus among genetics professionals that actionable IF should be disclosed to patients, but there is less support for the disclosure of other non-actionable IF. Further, several factors were identified as impacting IF disclosure decisions. Future study exploring these issues within the context of detailed clinical scenarios would be valuable. Ultimately, the views of genetics professionals and other stakeholders, such as the lay public, will be instrumental in developing a cohesive disclosure policy for IF from clinical sequencing investigations.

Acknowledgements

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

We would like to thank APOGEE-Net/CanGèneTest Research and Knowledge Network on Genetic Health Services and Policy, and the Master of Science Program in Genetic Counseling at the University of British Columbia for supporting this research. We would also like to thank the Canadian Association of Genetic Counsellors for facilitating the distribution of the questionnaire.

REFERENCES

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information
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Supporting Information

  1. Top of page
  2. Abstract
  3. INTRODUCTION
  4. MATERIALS AND METHODS
  5. RESULTS
  6. DISCUSSION
  7. CONCLUSIONS
  8. Acknowledgements
  9. REFERENCES
  10. Supporting Information

Additional supporting information may be found in the online version of this article.

FilenameFormatSizeDescription
ajmg_35794_sm_SupplTab1.doc46KTable I
ajmg_35794_sm_SupplTab2.doc47KTable II
ajmg_35794_sm_SupplMaterial.doc47KSupporting Information

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