genetics

Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased riskfor breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases.

OBJECTIVE:

To update the 2013 US Preventive Services Task Force (USPSTF) recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.

EVIDENCE REVIEW:

The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutations in asymptomatic women who have never been diagnosed with BRCA-related cancer, as well as those with a previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer free. In addition, the USPSTF reviewed interventions to reduce the risk for breast, ovarian, tubal, or peritoneal cancer in women with potentially harmful BRCA1/2 mutations, including intensive cancer screening, medications, and risk-reducing surgery.

FINDINGS:

For women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes, or who have an ancestry associated with BRCA1/2 gene mutations, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate. For women whose personal or family history or ancestry is not associated with an increased risk for harmful mutations in the BRCA1/2 genes, there is adequate evidence that the benefits of risk assessment, genetic counseling, genetic testing, and interventions are small to none. Regardless of family or personal history, the USPSTF found adequate evidence that the overall harms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate.

CONCLUSIONS AND RECOMMENDATION:

The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (B recommendation) The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations. (D recommendation).

Author/s:

US Preventive Services Task Force

What Are Polygenic Scores and Why Are They Important?

Tracy Ashby — Tue, 09 Apr 2019 05:00:00 +0000

Date Added:

April 9, 2019

Journal/Publication:

JAMA

Publisher:

American Medical Association

Publication Date:

April 8, 2019

Format:

Article

DOI (1):

10.1001/jama.2019.3893

Keywords

PMID (1):

30958510

MeSH

eye color

multifactorial inheritance

genomics

DNA

risk factors

cardiovascular diseases

Polygenic prediction scores are the next thing to watch for in the genomics arena. It is probably worth reading about them now. This is a concise 1 ½-page summary. James W. Mold, MD, MPH

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Mendelian disorders and monogenic traits result from combinations of variants in 1 or a few genes that have a large effect on the propensity for developing a certain disease or characteristic. In contrast, complex traits, such as eye color or cardiovascular disease, are determined by variations occurring in many genes that have smaller effect sizes and act over long periods of time, often in concert with environmental factors. The cumulative risk derived from aggregating contributions of the many DNA variants associated with a complex trait or disease is referred to as a polygenic risk score (also known as a genetic risk score). This JAMA Genomics and Precision Health article explains polygenic risk scores as determinants of an individual’s inherited risk for complex disease.

Author/s:

Sugrue, Leo P., Desikan, Rahul S.

Gen-Equip: Genetics Education for Primary Care

Tracy Ashby — Fri, 22 Mar 2019 05:00:00 +0000

Date Added:

March 22, 2019

URL:

Gen-Equip: Genetics Education for Primary Care

Type:

Meta-analyses, Reviews, and Guidelines, Clinical Decision Aids

Format:

Web Page

Keywords

genetics

primary care

education of patients

health literacy

MeSH

primary health care

decision support techniques

health education

This site has links to a variety of potentially useful educational modules, clinical decision aids, and patient education materials on clinical genetics in primary care. I assume it will be constantly updated, so it may be worth bookmarking. James W. Mold, MD, MPH

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About us

The partners in this project currently work in six different European countries. We have partners with expertise in primary care practice, genetics and adult education, as well as a patient support organisation. The project was originally designed by Professor Heather Skirton, who has a background in nursing, midwifery and genetic counselling, and Dr Isa Houwink, a GP from the Netherlands.