BRCA1/2 Genetic Testing in the Community Setting

2002 ◽  
Vol 20 (22) ◽  
pp. 4485-4492 ◽  
Author(s):  
Wendy Y. Chen ◽  
Judy E. Garber ◽  
Suzanne Higham ◽  
Katherine A. Schneider ◽  
Katie B. Davis ◽  
...  

PURPOSE: BRCA1/2 genetic testing has been commercially available in the United States since 1996. Most published reports described BRCA1/2 testing as research studies at large academic centers, but less is known about testing in the community. This study evaluates the process and early outcomes of BRCA1/2 genetic testing as a clinical service in the community setting. METHODS: Surveys were mailed to women in the United States whose health care providers ordered BRCA1/2 genetic testing from Myriad Genetic Laboratories from August 1998 through July 2000. Women tested at 149 large academic centers were excluded. Main outcome measures were demographic characteristics, recall of and satisfaction with the genetic testing process, and likelihood of pursuing cancer prevention strategies. RESULTS: Among the 646 respondents, 414 (64%) had a personal history of cancer and 505 (78%) had at least one first-degree relative with breast and/or ovarian cancer. Most subjects (82%) recalled discussions of informed consent before testing (median time, 30 minutes). Genetic results were conveyed during an office visit (57%), by telephone (39%), or by mail (3%). More than 75% of respondents were “very satisfied with the counseling received.” Cancer-free subjects with a germline mutation were more likely to consider prevention strategies after receiving the genetic results. CONCLUSION: Virtually all respondents had a personal and/or family history of breast/ovarian cancer. Although pretest and posttest communications were not standardized, overall satisfaction with clinical breast cancer genetic testing was high. Additional follow-up will provide data on future cancer prevention practices and cancer incidence.

2017 ◽  
Vol 35 (34) ◽  
pp. 3800-3806 ◽  
Author(s):  
Christopher P. Childers ◽  
Kimberly K. Childers ◽  
Melinda Maggard-Gibbons ◽  
James Macinko

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Daniel M. Saman ◽  
Kayla M. Walton ◽  
Melissa L. Harry ◽  
Stephen E. Asche ◽  
Anjali R. Truitt ◽  
...  

Abstract Background Cancer is the leading cause of death in the United States, with the burden expected to rise in the coming decades, increasing the need for effective cancer prevention and screening options. The United States Preventive Services Task Force has suggested that a shared decision-making process be used when clinicians and patients discuss cancer screening. The electronic medical record (EMR) often provides only reminders or alerts to primary care providers (PCPs) when screenings are due, a strategy with limited efficacy. Methods We administered a cross-sectional electronic survey to PCPs (n = 165, 53% response rate) at 36 Essentia Health primary care clinics participating in a large, National Cancer Institute-funded study on a cancer prevention clinical decision support (CDS) tool. The survey assessed PCP demographics, perceptions of the EMR’s ability to help assess and manage patients’ cancer risk, and experience and comfort level discussing cancer screening and prevention with patients. Results In these predominantly rural clinics, only 49% of PCPs thought the EMR was well integrated to help assess and manage cancer risk. Both advanced care practitioners and physicians agreed that cancer screening and informed discussion of cancer risks are important; however, only 53% reported their patients gave cancer screening a high priority relative to other health issues. Conclusions The impact of EMR-linked CDS delivered to both patients and PCPs may improve cancer screening, but only if it is easy to use and saves PCPs time.


2008 ◽  
Vol 56 (1) ◽  
pp. 89-99 ◽  
Author(s):  
Stephen R. Connor

More than 30 years have passed since palliative care was introduced in the United States, and what began as a small rebellion has evolved into a fairly large health care industry. Although the palliative care movement has considerably improved the care given to those at the end of life, many challenges remain for palliative care providers in the United States. This article discusses the history of hospice and palliative care in the United States, the Medicare Hospice Benefit, the growth of hospice and palliative care, and challenges such as the need for regulatory change, workforce issues, improving access to care, and improving the quality of palliative care.


2017 ◽  
Vol 216 (3) ◽  
pp. 270.e1-270.e9 ◽  
Author(s):  
Gillian Elizabeth Hanley ◽  
Jessica Nell McAlpine ◽  
Celeste Leigh Pearce ◽  
Dianne Miller

Author(s):  
Shelley S. Tworoger ◽  
Amy L. Shafrir ◽  
Susan E. Hankinson

Worldwide, ovarian cancer is the seventh most commonly diagnosed cancer and the eighth most common cause of death from cancer. In 2012, 239,000 women were diagnosed with ovarian cancer and 152,000 women died of the disease worldwide. In the United States in 2015, an estimated 21,290 women were newly diagnosed with ovarian cancer and 14,180 died from the disease. Both incidence and mortality have decreased over time in the United States, with a 1.6% and 2.1% annual decrease, respectively, from 2003 to 2012. Ovarian cancers can arise from epithelial, germ, or stromal cells, although about 90% are epithelial in origin. Risk factors best confirmed to increase risk of ovarian cancer include age and a family history of ovarian cancer, while parity, oral contraceptive use, and tubal ligation decrease risk. Several etiologic pathways, including hormonal and inflammatory pathways, have garnered substantial support from both epidemiologic and laboratory studies, although many questions remain.


ISRN Oncology ◽  
2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Deborah Cragun ◽  
Tuya Pal

Recognizing the importance of identifying patients at high risk for inherited cancer predisposition, the United States Preventive Services Task Force (USPSTF) has outlined specific family history patterns associated with an increased risk for BRCA mutations. However, national data indicate a need to facilitate the ability of primary care providers to appropriately identify high risk patients. Once a patient is identified as high risk, it is necessary for the patient to undergo a detailed genetics evaluation to generate a differential diagnosis, determine a cost-effective genetic testing strategy, and interpret results of testing. With identification of inherited predisposition, risk management strategies in line with national guidelines can be implemented to improve patient outcomes through cancer risk reduction and early detection. As use of genetic testing increasingly impacts patient outcomes, the role of primary care providers in the identification and care of individuals at high risk for hereditary cancer becomes even more important. Nevertheless it should be acknowledged that primary care providers face many competing demands and challenges to identify high risk patients. Therefore initiatives which promote multidisciplinary and coordinated care, potentially through academic-community partnerships, may provide an opportunity to enhance care of these patients.


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