Studies of tumor screening for Lynch Syndrome: |
Landsbergen et al. (2012) [78] | NED | Recently diagnosed CRC < 50 OR second CRC < 70 years old (n = 400) who had tumor screening. | There were no significant differences in cancer-related distress between those with normal or abnormal tumor results. Immediately after results, 40% of those with abnormal results had high cancer-related distress. [H] Perceived risk of CRC increased over time for both groups, with an overall increase from 43% to 50%. [H] There were no differences in mood states or social support between the groups. [H]
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Heald et al. (2013) [79] | USA | CRC where universal screening results went only to the surgeon (n = 237), to the surgeon and genetics (n = 87), and to the surgeon and genetics with a genetic counselor contacting the patient (n = 784) | GC referral rates improved with the increased involvement of genetic counselors (55% with no involvement; 82% with receipt of results only; 100% with direct patient contact). [A] Of those referred, uptake of GC increased with the increased involvement of genetic counselors (57% vs. 78% vs. 71%). [B] Overall, 88% of those receiving GC consented to GT. [C]
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Marquez et al. (2013) [80] | USA | Universal tumor screening of CRC ≤ 70 years old (n = 129) | 100% of patients with abnormal tumor results were referred to GC. [A] 92% (11/12) of those referred had GC and appropriate follow-up; 1/12 did not have insurance coverage. [B, I] Of those seen for GC, uptake of GT was 100%. [C]
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Moline et al. (2013) [81] | USA | Universal tumor screening of EC patients (n = 245) | |
Ward et al. (2013) [82] | AUS | CRC patients with mismatch repair deficient tumors (n = 245) | 18% of patients were referred for GC: low risk (2.5%) < high risk (43%) Factors predicting referral were high risk of Lynch syndrome, young age at diagnosis, and right-sided tumor. [A] 89% attended GC: low risk (67%) < high risk (90%). [B] 87% had GT: low risk (50%) < high risk (90%). [C] 69% of those who did not have clinical GT provided research samples, two additional mutations were found: one disclosed, and one declined to receive research results. [C]
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Batte et al. (2014) [83] | USA | Universal screening of unselected EC (retrospective = 408; prospective = 206) | The prospective group had higher rates of GC (72%) than the retrospective group (42%); GT rates were similar (77% prospective and 79% retrospective). [B, C] Facilitators to GC were a younger age and had a recent diagnosis; barriers included a perceived lack of relevance, inability to travel, limited insurance, and previous GC/GT. [B]
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Hall et al. (2014) [84] | USA | Consecutive CRC and EC patients who had reliable internet access (n = 66) whose tumor screening results were disclosed directly via their electronic medical record | Feasibility was reached as 74% of patients consented to receive tumor results on the electronic medical record, and 86% viewed the result Most patients with normal (56%) and abnormal (60%) tumor results reported speaking to their doctor. Of five patients with abnormal results, three contacted clinical genetics, and one pursued GT via medical oncology. [B, C, I] Acceptability and satisfaction were high regardless of tumor results, with higher rates among those with a higher perceived risk of hereditary cancer. [F] Perceived hereditary risks were described as low–moderate. [H] No differences in anxiety at baseline vs. 72 h after the GT results, but anxiety was significantly lower one month after results. [H] No difference in anxiety between abnormal and normal tumor results. [H]
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Frolova et al. (2015) [85] | USA | EC before (n = 395) and after (n = 242) the implementation of universal tumor screening | 100% of patients with abnormal tumor results were referred for GC pre-implementation and post-implementation of universal tumor screening. [A] Higher rates of patient acceptance for GC post-universal screening (95%) compared to pre-universal screening (63%); rates of GT were similar (71% pre and 76% post). [B, C] Among patients with normal tumor screening, 12% of were referred for GC in both the pre-universal testing and post-universal testing groups, with no significant difference in the proportion of women who were offered and underwent GT. [A, C] Overall, significantly more women underwent GT after the implementation of universal screening (9.1% vs. 4.8%). [C]
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Kidambi et al. (2015) [86] | USA | CRC in selected (<50 or <60 with features of Lynch syndrome; n = 107) and universal screening groups (n = 285) | 100% of selected and 92% of universally screened patients with abnormal tumor results were contacted by a genetic counselor. [A] Uptake of GC was lower in the universal (64%) compared to selective (87%) group; however, the uptake of GT was higher in the universal group (93% vs. 77%). [B, C]
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Hunter et al. (2015) [87] | USA | CRC patients undergoing universal tumor screening (n = 145) | 35% worried about having a gene mutation; these patients were younger or had lower education levels. [H] >90% of patients agreed they would be able to cope with their results, that the test should be available, and they understood the reason for the test. [H] Overall distress scores were low; 77% had a lack of distress, and 2% had high distress, which was not associated with age, stage, perceived risk, or endorsement of benefits/barriers. [H] 93% of participants intended to share their results with their health care providers, with women being more likely to share than men. [I]
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Goverde et al. (2016) [88] | NED | Consecutive series of EC patients ≤70 years (n = 179) having tumor screening | 100% of patients with abnormal results were offered GC. [A] 100% of patients received GC, and 91% consented to GT. [B, C] Routine Lynch syndrome screening in EC patients ≤ 70 years is cost-effective.
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Brennan et al. (2017) [89] | AUS | Consecutive series of CRC patients (n = 1612) having tumor screening | |
Holter et al. (2017) [90] | CAN | Conference abstract: CRC cancer patients <60 years (n = 502) undergoing tumor screening | 100% referred for GC; 94% received GC, and of those, 90% had GT. [A, B, C] Time from referral to GC was 59 days, and referral to GT result was 103 days. [D]
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Hunter et al. (2017) [91] | USA | Newly diagnosed CRC patients (n = 189) undergoing tumor screening | 92% of patients with abnormal tumor results were interested in GT and 87% pursued additional GT to confirm their risks. [C] Attitudes of tumor testing were positive, especially in those who worried that they had Lynch syndrome and who endorsed more benefits to tumor testing. Most patients (93%) wanted to know if they were at risk of hereditary CRC. [H] Prior to results, patients intended to share results with children/sibling (96%), parents (89%), or any relative (84%). Of patients with abnormal results, 93% reported sharing results with at least one first-degree relative. The most common reason to share was a sense of responsibility, and the more common barrier was worrying that their relatives would worry about getting cancer. [H, I]
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Kupfer et al. (2017) [92] | USA | Conference abstract: CRC in White (n = 266) African American (n = 174), and Hispanic (n = 125) patients having tumor screening | Caucasian patients were more likely to be referred for GC (64%) compared to African American (54%) and 21% of Hispanic patients. [A] Of those who had GC, 80% of Caucasian, 71% of African American, and 40% of Hispanic patients had GT. [C]
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Livi et al. (2017) [93] | ITA | Conference abstract: Consecutive EC patients (n = 166) having tumor screening | |
Najdawi et al. (2017) [94] | AUS | Patients with EC (any histology) and endometroid or clear cell gynecological cancer (n = 124) having tumor screening | |
O’Kane et al. (2017) [95] | IRL | CRC patients having tumor screening at one of three centers (n = 3906) | Overall, 56% of patients with abnormal tumor testing were not referred to genetics, declined, or did have additional tumor testing; the highest rate of referral (66%) was noted a center using a physician-requested model compared to two centers using universal screening models (33% and 30%). [A] Of those referred for GC, 11% declined or did not attend. [B]
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Patel et al. (2017) [96] | USA | Conference abstract: Consecutive CRC patients (n = 1597) having tumor screening | 100% of patients who screened positive were referred for GC. [A] Of those referred for GC, 77% had GC, and 88% had GT. Non-completion of GC and GT was associated with older age and a lack of private insurance. [B, C] Of those tested, 83% were enrolled in a high-risk clinic. [I]
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Watkins et al. (2017) [97] | USA | EC patients (n = 242) having tumor screening | |
Martin et al. (2018) [98] | USA | Newly diagnosed CRC patients (n = 78) having tumor screening | Referral for GC was submitted 70.5% of the time, with CRC surgeons more likely to refer than general surgeons. [A] 27% of referred patients did not complete GT. [C] Wait time to GC referral was 65 days; GC referral to first visit was 71 days. [D]
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Metcalfe et al. (2018) [99] | USA | Consecutive upper tract urothelial cancer patients (n = 115) having tumor screening | 100% of patients who screened positive were referred for GT. [A] 56% of patients/families received GC and GT. [B, C]
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Miesfeldt et al. (2018) [100] | USA | CRC (n = 175) or EC (n = 276) patients where results were sent to a surgeon, patient navigator, or both | 30 patients (16 navigated, 14 non-navigated) had abnormal tumor results. 100% of navigated patients were referred; 88% received GC, and 100% of those eligible had GT. 42% of non-navigated patients received GC, and 80% of those eligible had GT. [A, B, C]
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Studies of tumor genetic testing |
Gray et al. (2016) [101] | USA | Patients with stage IV lung or CRC (n = 167) enrolled in a tumor testing study | Genetic knowledge was moderately low. [G] Patients had positive attitudes about having a genetic test. [H] >95% patients chose to learn about cancer-related, pharmacogenetic, and carrier status results. Most also wanted to know about negative prognostic results (84%) and the risk of developing an untreatable non-cancer condition (85%). [J] Patients with less positive attitudes about GT were less likely to have a high preference for the return of GT results. [J]
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Pinheiro et al. (2017) [102] | USA | Cancer patients being offered or receiving tumor results (n = 66) | Patients’ top two preferred information topics were the benefits of tumor GT (88%) and how tumor GT determines treatment (88%); 71% were interested to hear about implications for family members. [J] Patients preferred to receive information from their nurse/physician (85%) or written information (67%), few preferred the internet (29%) or short videos (12%). [J]
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Best et al. (2018) [103] | AUS | Patients with advanced solid tumors participating in a molecular tumor screening study (n > 369) | Protocol of a mixed-methods longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer. Planned evaluation of patient knowledge, satisfaction, preferences for genetic information, attitudes about tumor genomic profiling, and the behavioral, decisional, and psychological outcomes and their respective predictors. [F, G, H, I, J]
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