The Use of Family History Questionnaires: An Examination of Genetic Risk Estimates and Genetic Testing Eligibility in the Non‐responder Population

Abstract

The use of mailed family history questionnaires (FHQs) has previously been established to be an effective method for obtaining family history information for the triage of patients for genetic counseling and genetic testing of hereditary breast and ovarian cancer syndrome; yet only 53% of patients complete their FHQ within 6 months from the date of mailing (Armel et al. Journal of Genetic Counseling, 18(4):366-378, 2009). Although literature exists evaluating why women may not attend genetic counseling, no data are currently available examining genetic risk or genetic testing eligibility in the population of patients not returning their FHQ (non-responders). Concern exists that if non-responders are not followed-up for the purpose of triage for genetic counseling, individuals at high-risk for a hereditary cancer syndrome may be missed. This article explores the demographics of the non-responder population to assess genetic risk estimates for mutations in the BRCA1 and BRCA2 genes and genetic testing eligibility as compared to a responder population of patients who completed a mailed FHQ. A total of 430 pedigrees were obtained, 215 from non-responders and 215 from responders. Results of this study indicate that 69% of non-responders were either unreachable by telephone (42%), declined an appointment (19%), or were previously seen in another center for a genetic counseling visit (8%). Additionally, results indicate that non-responders are less likely to be eligible for genetic testing (40%) as compared to responders (57%) (p = 0.0004). Together these data shed light on a population of patients for which limited information exists and suggest that we question how and to what extent clinics should pursue non-responders, particularly in light of global reductions in health care funding.

Comment, par qui et pourquoi une consultation d’oncogénétique ?

“…Ce préalable implique qu'une personne, dont la probabilité qu'elle soit porteuse de la mutation est élevée, soit en vie, accepte que son dossier médical soit transmis à un généticien et accepte le principe de l'analyse molé-culaire ; si la mutation est identifiée et son caractère délétère documenté, elle accepte alors de diffuser elle-même l'information dans sa famille, la préservation de la confidentialité et du secret médical étant indispensable [4]. Or, beaucoup de patients ne sont pas prêts à transmettre ce message pour diverses raisons, qui tiennent à leur difficulté à parler de leur propre histoire, à leur souhait de parcourir seul un chemin douloureux, à l'impossibilité de comprendre ou d'accepter que d'autres membres de leur famille pourraient être confrontés à une situation comparable, ou plus simplement à la mésentente familiale, qui est loin d'être exceptionnelle [5].…”

All in the Family: Barriers and Motivators to the Use of Cancer Family History Questionnaires and the Impact on Attendance Rates

“…While clearly desirable to both patients and genetic counselors, a number of studies have also confirmed that a self-administered FHQ is an accurate tool for the systematic collection of family history information (Armel et al 2009;Qureshi et al 2009;Vogel et al 2012). Furthermore, FHQs have been demonstrated to be effective in triaging patients for genetic counseling and assessing genetic risk; however, despite these recognized benefits, response rates to mailed FHQs remain low, ranging from 25 to 53 % (Armel et al 2009(Armel et al , 2011Chalmers et al 2001;Leggatt et al 1999;Mancuso et al 2004).…”

“…In two small telephone surveys, 89 and 63 % of patients that did not complete a mailed FHQ reported that they intended to, confirming a definitive gap between intent and actual response (Appleby-Tagoe et al 2012;Poplawski et al 2009). In an attempt to understand reasons for non-response, two Canadian studies reported that the most commonly cited reasons for non-completion were related to being busy, procrastinating, having limited access to family history information, and bad timing (Appleby-Tagoe et al 2012;Armel et al 2011). Of interest, non-completion of the FHQ was not attributed to lack of perceived benefit of genetic counseling or lack of perceived risk of cancer; only 7 % of patients reported that uncertainty about having genetic counseling and testing attributed to their non-response (Armel et al 2011).…”

“…In an attempt to understand reasons for non-response, two Canadian studies reported that the most commonly cited reasons for non-completion were related to being busy, procrastinating, having limited access to family history information, and bad timing (Appleby-Tagoe et al 2012;Armel et al 2011). Of interest, non-completion of the FHQ was not attributed to lack of perceived benefit of genetic counseling or lack of perceived risk of cancer; only 7 % of patients reported that uncertainty about having genetic counseling and testing attributed to their non-response (Armel et al 2011). As compared to individuals who completed a mailed FHQ, nonresponders were significantly more likely to cite fewer overall perceived benefits of cancer genetic counseling (Appleby-Tagoe et al 2012).…”

“…Despite evidence suggesting similar levels of genetic risk in populations of patients that complete a FHQ and those that do not, without completing a FHQ, patients may not be routinely offered an appointment for genetic counseling (Armel et al 2011). Factors such as increased anxiety, family obligations, insurability, and time commitment have been consistently identified as barriers for prospective patients regarding genetic counseling or testing, and may also play a role in lack of response to a mailed FHQ (Cappelli et al 1999;Foster et al 2004).…”