The utilisation of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilised more frequently in hereditary cancer testing. While this has benefits of reducing cost and allowing clinicians to cast a wide net in the elucidation of their patient’s cancer, panel testing has the potential to reveal unexpected information. We report on a proband with pathogenic variants in two different hereditary colon cancer syndromes.
Case report
A 39 year-old male with history of colon cancer diagnosed at 38, with normal IHC, and >20 colon polyps presented for genetic counselling. Family history was significant for a paternal aunt and paternal uncle with colon cancer in their early 50s. Both parents reportedly had colon polyps requiring frequent colonoscopy; his mother had a TAH-BSO at 40 for unknown reasons. Testing with a 7-gene high-risk hereditary colon cancer panel identified a homozygous pathogenic variant, c.1187G >A (p. Gly396Asp), in MUTYH and a likely pathogenic duplication of exon 7 in MSH2. Due to this finding, his parents were referred for genetic counselling and testing; his mother, who was diagnosed with colon cancer in the interim, was found to carry the MSH2 duplication. Both parents were obligate carriers of the MUTYH variant.
Conclusion
This case example demonstrates the impact of identifying multiple hereditary syndromes. Being aware of all conditions has significant impact on at-risk family members particularly those who test negative for a known familial pathogenic variant, yet could still be at risk for cancer due to a second familial pathogenic variant.
There is an increasing need for genetic counseling and testing for individuals diagnosed with cancer, as treatment may be affected by the results. In addition, the identification of individuals before a diagnosis of cancer allows for optimal surveillance and early detection and prevention of cancer. With the recognition that as much as 10% of all cancers are hereditary, there is a growing need to improve access to genetic counseling and genetic testing, both before and at the time of diagnosis. This article focuses on models of identifying at-risk patients, including underserved communities; providing genetic counseling and testing in community practices; using telehealth; and collaborating with nongenetics health care providers and technological solutions to maximize efficiency and access.
Abstract This abstract was withdrawn by the authors. Citation Format: Chakladar M, Nair MG, Prabhu JS, Cohen S, Srinivas ST, Lingadahalli SS. Withdrawn [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P3-09-05.
The birth of my first child, Daniel, a rather large experience in itself, initially had a relatively and surprisingly small impact on me as a genetic counselor.Daniel has Down syndrome.I found out in the 31st week of my pregnancy, when ultrasound identified ascites and the beginnings of pericardial effusions-which prompted me to undergo amniocentesis.While waiting for results, I remember thinking, "This can't happen to me."Not only was I a genetic counselor who gave other people this type of news, but we also had a next-door neighbor with Down syndrome.Now that statistically just wasn't allowed-two children with Down syndrome, not just on the same block, but next door to each other?Impossible!Yet, it was possible.Exactly 1 week after receiving the FISH results, Daniel was delivered by C-section.He spent the next 2 months in the NICU and came home on his due date.I went back to work a mere 5 weeks after Daniel came home-one of which he spent in the hospital following surgery for Hirshsprung's.I felt fortunate to have had even that much time, considering I had been on bedrest for 5 weeks for preterm labor and then was out the entire 8 weeks he was in the hospital.To my surprise, it was almost a relief to get back to work.I was able to reclaim myself after concentrating so hard and for so long on my son's fragile life.I continued providing prenatal counseling, and didn't really change anything in the way I counseled.I fell right back into the same role I had left.Oh, it felt awkward at times, but I was able to distance myself, even when couples had a prenatal diagnosis of Down syndrome-and even when they terminated.When I described the features of Down syndrome during a session, it was almost like I was watching someone else do it for me.The only time this was difficult was when I had a couple who chose to terminate their pregnancy with Down syndrome-to me seemingly without really
Abstract Improving efficiency of genetic counseling can allow genetic counselors to see more patients, increasing access to this valuable service. However, the patient experience should be carefully considered as changes are made, so that quality is not sacrificed. The primary outcome of this study was time in session with a board‐certified genetic counselor at baseline (T0), after the addition of a genetic counseling assistant (GCA) (T1). The secondary outcome was the patient experience, which was collected from an electronic survey sent three days after the genetic counseling session. A total of 689 appointments were evaluated over 12 months; 291 in T0 by two genetic counselors (Jan–June 2019), 398 in T1 by two genetic counselors (August 2019–Jan 2020). The overall genetic counseling median appointment time decreased by 10 min in T1 ( p < 0.001), and the median amount of time spent on post‐session activities by the two genetic counselors decreased by 15 min ( p < 0.001). There was an increase in the average number of patients seen per FTE per month from 24.3 in T0 to 33.2 in T1. There was no difference in overall patient experience from T0 to T1 ( p = 0.3). There was high patient satisfaction, including with the amount of time spent in a session during both time periods ( p = 0.63). This study found decreased appointment time with the addition of a GCA in a single clinic without impacting patient experience.
Objective: The current study seeks to provide estimates of the adequacy of journal coverage in the Social Work Abstracts (SWA) database. Method: A total of 23 journals listed in the Journal Citation Reports social work category during the 1997 to 2005 period were selected for study. Issue-level coverage estimates were obtained for SWA and PsycINFO, the comparison database. Results: Both databases provided less than optimal coverage of social work journals, and SWA performed significantly worse than did PsycINFO. Both databases provided better coverage of National Association of Social Workers (NASW) Press journals than non—NASW Press journals. Conclusion: The results provide evidence of substantial deficits in SWA that merit serious concern.
