abstract - Identification of Cancer Patients with Lynch Syndrome: Clinically Significant Discordances and Problems in Tissue-Based Mismatch Repair Testing

Myriad Cert Petition Now Fully Briefed; Supreme Court May Decide by Feb. 20 | Bloomberg BNA

open access: Evaluation of Genomic Applications in Practice and Prevention (EGAPP) (breast, ovarian, Lynch Syndrome...)

Evaluation of Genomic Applications in Practice and Prevention (EGAPP): Implementation and Evaluation of a Model Approach

The EGAPP initiative was launched by the CDC Office of Public Health Genomics in the fall of 2004. The initiative's goal is to establish and evaluate a systematic, evidence-based process for assessing genetic tests and other applications of genomic technology in transition from research to clinical and public health practice. EGAPP also aims to integrate:

• existing recommendations on implementation of genetic tests from professional organizations and advisory committees.^1,2,3,4
• knowledge and experience gained from existing processes for evaluation and appraisal (e.g., US Preventive Services Task Force, CDC’s Task Force on Community Preventive Services), previous CDC initiatives (e.g., the ACCE process for assembling and analyzing data on genetic tests; http://www.cdc.gov/genomics/gtesting/ACCE/FBR/index.htm) 5, and the international health technology assessment experience.

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Working Group: Topics

Completed Topics | Topics Under Review | Topics Identified

Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study.

 Blogger's Note: in the absence of the full paper ($$$) conclusions should be viewed with caution (eg. detailed reasons, albeit summarized in the abstract...) because....the conclusion do not make sense. 

Please post a message IF this paper is available elsewhere in open text publishing format.

 BACKGROUND:

Genetic counseling and testing is recommended for women at high but not average risk of ovarian cancer. National estimates of physician adherence to genetic counseling and testing recommendations are lacking.

METHODS:

Using a vignette-based study, we surveyed 3200 United States family physicians, general internists, and obstetrician/gynecologists and received 1878 (62%) responses. The questionnaire included an annual examination vignette asking about genetic counseling and testing. The vignette varied patient age, race, insurance status, and ovarian cancer risk. Estimates of physician adherence to genetic counseling and testing recommendations were weighted to the United States primary care physician population.

 CONCLUSION:

Physicians reported that they would refer many average-risk women and would not refer many high-risk women for genetic counseling/testing. Intervention efforts, including promotion of accurate risk assessment, are needed.

abstract: Genetic Counseling: Bias in the Reporting of Family History: Implications for Clinical Care

".....This is evident by the underreporting of paternal family histories of cancer, and also, though to a lesser extent, by degree (family relationship). These discrepancies in reporting family history of cancer imply we need to take more care in collecting accurate family histories and also in the clinical management of individuals in relation to hereditary risk"

media: Unleashing the genome in the bottle (Ion Torrent dna testing)

MORE STILL TO LEARN

"Another challenge is that although a person's genome doesn't change, its meaning will. As scientists uncover more DNA variants that protect against disease and variants that make it more likely, a genome sequence that meant one thing in 2012 will have a different meaning in 2013, not to mention 2020.
A DNA variant that was once thought to be dangerous "might turn out to be benign if countered by another," says Greely. "Whose responsibility will it be to tell you that, years later?" DNA testing companies offer subscriptions that give customers regular updates like that."

Read more: http://www.vancouversun.com/health/Unleashing+genome+bottle/5990610/story.html#ixzz1jLlmdIDW

abstract:Preferences for Genetic Testing to Identify Hereditary Colorectal Cancer: Perspectives of High-Risk Patients, Community Members, and Clinicians

"...Among community members and patients, the most frequently discussed considerations were the personal impact of GT and family impact, respectively. Among physicians, the most frequently discussed topic was the characteristics of genomic services (e.g., test invasiveness); among genetic counselors, the most frequently discussed topic was evidence and recommendations. A variety of test characteristics were important in decision making about GT. High-risk patients, community members, and health care providers had different priorities. Health care professionals should be aware of differences between their own considerations about GT and those that are important to patients."

New DNA reader to bring promise | Reuters

Narod: Should All Women With Breast Cancer Be Tested for BRCA Mutations at the Time of Diagnosis?

....For now, perhaps the simplest recommendation is to test women under age 50 years with triple-negative breast cancer and women with a family history of early-onset breast cancer or ovarian cancer......

Gynecologic Oncology : There is no decision to make: Experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer

Highlights

► Women's views regarding genetic testing at diagnosis of ovarian cancer 
► This ‘treatment-focused’ genetic testing is highly acceptable 
► Advantages of genetic testing at diagnosis outweigh the disadvantages

abstract: Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

"Awareness of reproductive testing options was very variable among the cohort. The findings highlight the complexities of reproductive decision making for young women who knowingly carry a BRCA mutation, and the dilemmas inherent to reproductive genetic testing when the condition being tested for also affects a prospective parent."

Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians - journal Cancer 2011 - abstract

CONCLUSION:

Physicians reported that they would refer many average-risk women and would not refer many high-risk women for genetic counseling/testing. Intervention efforts, including promotion of accurate risk assessment, are needed.

Many Doctors Ignore Cancer Genetic Testing Guidelines - US News and World Report

Abstract/full free access: BRCA in the Ashkenazi Population: Are Current Testing Guidelines Too Exclusive?

(The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production) 

Abstract:

 The BRCA1/2 genes account for a significant portion of hereditary breast and ovarian cancers and they are especially prevalent in the Ashkenazi Jewish population. Women who have a mutation can prevent breast and ovarian cancer with surgical intervention. We describe an Ashkenazi Jewish patient who illustrates that current testing criteria are too restrictive, particularly for this population of patients. The patient's sister was diagnosed with breast cancer at age 33; however, she was not a mutation carrier. Based on practice guidelines, the patient was not recommended genetic testing. She subsequently underwent direct-to-consumer (DTC) testing and discovered that she was a mutation carrier. This case demonstrates the need for clinicians to be aware of the higher prevalence of BRCA mutations in the Ashkenazi population. It also exemplifies the need to involve medical professionals, including genetic counselors, in the dissemination of DNA test results.

press release: Decoding cancer patients' genomes is powerful diagnostic tool (and potential treatments)

abstract: eMJA: Doctors breaching patient privacy: Orwell redux

eMJA: Editorial: Alerting genetic relatives to a risk of serious inherited disease without a patient’s consent

updated website links : Lynch syndrome - Gene Tests - DNA tests ordered by healthcare professionals - Genetics Home Reference (international locations/types of tests offerred)

full free access (pdf): Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer (Ontario, Canada study including demographics)

Abstract

BACKGROUND: The heritable fraction of ovarian cancer exceeds that of any other common adult cancer. Most inherited cases of ovarian cancer are due to a germline mutation in BRCA1 or BRCA2. It is important to have an accurate estimate of the proportion of ovarian cancer patients who carry a mutation and the specific factors which predict the presence of a mutation.

METHODS: We tested a population-based series of 1342 unselected patients diagnosed with invasive ovarian cancer between 1995-1999 and 2002-2004 in Ontario, Canada, for germline mutations in BRCA1 and BRCA2. The two genes were tested in their entirety, using a range of techniques, including multiplex ligation-dependent probe amplification (MLPA).

RESULTS: Among the 1342 women, 176 women carried a mutation (107 in BRCA1, 67 in BRCA2, and two in both genes) for a combined mutation frequency of 13.3%. Seven deletions were identified using MLPA (3.9% of all detected mutations). The prevalence of mutations was particularly high among women diagnosed in their forties (24.0%), in women with serous ovarian cancer (18.0%) and women of Italian (43.5%), Jewish (30.0%) or Indo-Pakistani origin (29.4%). A mutation was seen in 33.9% of women with a first-degree relative with breast or ovarian cancer and in 7.9% of women with no first-degree relative with breast or ovarian cancer. No mutation was seen in women with mucinous carcinoma.

CONCLUSIONS: BRCA1 and BRCA2 mutations are common in women with invasive ovarian cancer. All women diagnosed with invasive non-mucinous ovarian cancer should be considered to be candidates for genetic testing.

full free access abstract + full paper: Social and ethical implications of BRCA testing — Ann Oncol

Abstract:
"Oncologists are asked with increasing frequency to counsel their patients with respect to the medical, psychological and social repercussions of genetic testing for cancer susceptibility that may have been prescribed by physicians or carried out through direct-to-consumer tests. This article critically reviews the main ethical and social implications of BRCA testing, focusing on genetic responsibility and genetic discrimination. Genetic responsibility toward oneself and others is a highly debated implication of genetic testing for cancer predisposition that requires broad considerations of the boundaries between individual and community rights and a reappraisal of the notion of autonomy as relational. Physicians’ duty to warn ‘at risk’ relatives can be an ethical quandary, yet confidentiality is key to the patient–doctor relationship. Mutation carriers may be subject to different forms and degrees of genetic discrimination and many individuals at risk have forgone BRCA testing to avoid potential discrimination. The scientific and medical community, together with patients and the public, has actively engaged against genetic discrimination. The legislation in many countries now protects against genetic discrimination by insurance companies and employers. Legal and regulatory issues are not the final answer to discrimination and profound cultural changes are required to create understanding and acceptance of all differences...."