Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations

Abstract Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.

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Choices and Choosing in Cancer Genetics

Inside the Politics of Technology ◽

10.1017/9789048503841.006 ◽

2005 ◽

pp. 109-124

Author(s):

Dirk Stemerding ◽

Annemiek Nelis

Keyword(s):

Cancer Genetics

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Cutaneous Metastasis of Prostate Adenocarcinoma: A Rare Presentation of a Common Disease

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/2324709621990769 ◽

2021 ◽

Vol 9 ◽

pp. 232470962199076

Author(s):

Alexander Dills ◽

Okechukwu Obi ◽

Kevin Bustos ◽

Jesse Jiang ◽

Shweta Gupta

Keyword(s):

Prostate Cancer ◽

Serine Proteases ◽

Cancer Genetics ◽

Performance Status ◽

Distant Metastases ◽

The United States ◽

Cutaneous Metastasis ◽

Common Disease ◽

Cutaneous Metastases ◽

Rare Presentation

Prostate cancer is the most common cancer affecting men in the United States and the second greatest cause of cancer-related death. Metastases usually occur to bone followed by distant lymph nodes and then viscera. Cutaneous metastases are extremely rare. Their presence indicates advanced disease and a poor prognosis. As they are highly variable in appearance and may mimic a more benign process, biopsy is essential for identification. Serine proteases, particularly human tissue kallikreins, may play an important role in promoting metastasis and facilitate infiltration of the skin. Individual cancer genetics may predispose to more aggressive cancer and thus earlier and more distant metastases. In this article, we report our case of a 67-year-old man with a 4-year history of castrate-resistant prostate cancer with cutaneous metastases confirmed by histology. Despite multiple lines of systemic therapy, the patient suffered progressive disease with worsening performance status and was enrolled in hospice.

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Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-021-00176-z ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Lucie G. Hallenstein ◽

Carol Sorensen ◽

Lorraine Hodgson ◽

Shelly Wen ◽

Justin Westhuyzen ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Triple Negative Breast Cancer ◽

Triple Negative ◽

Cancer Genetics ◽

Eligibility Criteria ◽

Pathogenic Variants ◽

Genetics Services ◽

Age Of Diagnosis ◽

Over Time

Abstract Background Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014–2018. Methods Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. Results There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014–2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. Conclusions Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment.

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Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12295 ◽

2015 ◽

Vol 43 (3) ◽

pp. 529-537

Author(s):

Sarah Scollon ◽

Katie Bergstrom ◽

Laurence B. McCullough ◽

Amy L. McGuire ◽

Stephanie Gutierrez ◽

...

Keyword(s):

Cancer Genetics ◽

Recurrence Risk ◽

Genomic Research ◽

Return Of Results ◽

Genetics Research ◽

Personal Significance ◽

Pediatric Diseases ◽

Increased Risk ◽

Preventive Ethics ◽

Risk Of Cancer

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child’s cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.

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