Indications For Genetic Counseling Research Articles

Genetic Counseling, Testing, and Family Communication Into Survivorship After Diagnosis of Breast Cancer.

To examine receipt of genetic testing and communication with relatives about results into survivorship after diagnosis of breast cancer. Women age 20-79 years diagnosed with early-stage breast cancer in 2014-2015 and reported to the Georgia and Los Angeles County SEER registries were surveyed approximately 7 months and 6 years after diagnosis (n = 1,412). We asked about genetic counseling, testing, and communication with relatives about results. We categorized women into indications for testing on the basis of clinical guidelines at the time of diagnosis and at the time of the follow-up survey (FUPs). A total of 47.4% had indications for genetic testing at any time: 28.0% at baseline and an additional 19.4% at the time of the FUPs (only); 71.9% (95% CI, 67.4 to 76.4) of those with a baseline indication reported genetic testing versus 53.3% (95% CI, 47.3 to 59.2) with an indication at FUPs only and 35.0% (95% CI, 31.6 to 38.4) with no indication (P < .001). There were no significant racial or ethnic differences in receipt of testing, controlling for age and clinical indications (P = .239); results for genetic counseling were similar. Only 3.4% of survivors had direct-to-consumer genetic testing (DTCt) for cancer. Testers who reported a pathogenic variant (n = 62) were much more likely to have talked to most or all their first-degree adult relatives about genetic testing than those with a variant of unknown significance (n = 49) or a negative finding (n = 419): 62.7% versus 38.8% and 38.0%, respectively (P < .001). Many women with indications for genetic counseling and testing into survivorship do not receive it. But those tested reach out to family members on the basis of the clinical relevance of their results. Very few patients obtained DTCt, which suggests that these tests do not substitute for clinical testing in breast cancer survivors.

Germline and Somatic Mutations in Prostate Cancer for the Clinician.

It is increasingly important for clinicians involved in the management of prostate cancer to understand the relevance of heritable (germline) mutations that, for select patients, affect prostate cancer risk and cancer biology, and acquired (somatic) mutations that occur in prostate cancer cells. In the advanced disease setting, mutations in homologous recombination repair genes (eg, BRCA1, BRCA2, ATM, CHEK2, PALB2) suggest candidacy for platinum chemotherapy and PARP inhibitor trials. Similarly, microsatellite instability and mismatch repair deficiency, which may arise in the setting of MLH1, MSH2, MSH6, and PMS2 mutations, suggest potential vulnerability to PD-1 inhibitors. Germline genetic testing has potential importance in the treatment and assessment of familial risk, and tumor-directed somatic sequencing may guide treatment decision-making. This review provides clinicians with knowledge of basic genetic terminology, awareness of the importance of family history of cancer (not limited to prostate cancer), contrasts between the different but potentially related objectives of germline versus somatic testing of tumor tissue, and indications for genetic counseling. Specific clinical scenarios, objectives of testing, and nature of the assays are reviewed. Germline and somatic mutations of known and potential relevance to prostate cancer are discussed in the context of treatment options, and algorithms to assist clinicians in approaching this area are proposed.

The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.

To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling. We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy-related factors. ECS was offered to 483 of 500 women, and 192 (39.8%) accepted. Of the 67 women counseled preconceptionally, 46 (68.7%) accepted ECS. This was significantly more than for 416 women counseled during pregnancy, of whom 146 (35.1%) accepted (P≤0.001). For pregnant patients, the mean gestational age of those accepting ECS (12weeks 3days; n=146) was significantly lower than those declining (13weeks 4days; n=270; P≤0.001). The acceptance rates were 7 of 12 (58.3%, P=0.195) for Ashkenazi Jewish women, 12 of 41 (29.3%; P=0.186) for Asian women, and 7 of 25 (28.0%; P=0.241) for women of mixed ethnicity. These results suggest that receiving genetic counseling prior to or earlier in the first trimester is associated with acceptance of ECS and support the importance of early genetic counseling about carrier screening options.

Y chromosome microdeletions as a cause for male infertility

Male infertility represents around half of all cases of infertility. The microdeletions of the azoospermia factor (AZF) region, located in the long arm of Y chromosome, are the second most common reason for reproductive problems among men. This genetic mutation results in low sperm count and fertility rate. The presence of Y microdeletions can lower the success rate of in vitro procedures and would be transmitted to the next generation. We have analyzed 30 articles about the connection between the deletions of the Y chromosome and the decreased sperm count. 25 of them confirm the role of this genetic mutation, while the rest do not, but they investigate only some AZF loci. The negative results could also be due to the different ethnic origin of the participants, difference between the research method and etc. Testing infertile men for Y chromosome deletions could lead to a major improvement in the options for treating infertility. Also, if such mutation is diagnosed, this is an indication for genetic counseling in order to avoid future fertility issues in the next generation. The review of the included articles proves the role of the Y chromosome microdeletions as a reason for male infertility and outlines the main principles when performing the genetic test for this mutation.

Use of the electronic medical record (EMR) to identify women at increased risk for hereditary breast and ovarian cancer (HBOC).

236 Background: Diagnosis of breast cancer at a young age is an indication for genetic counseling and possible BRCA testing. However, not all women with this early diagnosis are referred for genetic counseling, especially if they do not have a family history of breast or ovarian cancer. Methods: The genetics department in Kaiser Permanente Southern California (KPSC) provides clinical genetic services in an integrated health care system serving over 3.6 million members. Using data from the KPSC tumor registry, the KPSC EMR system, and a departmental cancer test results database, we identified 454 women diagnosed with early breast cancer (&lt;46 years) between September 2005 and September 2010 who had not received genetic counseling. We contacted these women with a letter and/or phone call offering a genetics consultation, and we offered BRCA testing to all those who came for counseling. Results: 142 women (31%) came in for genetic counseling, and 312 women (69%) declined, did not keep their appointment, or never responded. Hispanics were more likely to schedule and keep an appointment than Caucasians (OR=1.35, 95% CI, 0.79-2.31), although this was not statistically significant. Of those who came in for counseling, African Americans were significantly less likely to accept genetic testing than Caucasians (OR=0.31, 95% CI, 0.10-0.98).Of the 142 patients who were counseled, 122 (86%) accepted testing. We identified 6 patients (5%) who were positive for a deleterious BRCA mutation and 6 patients (5%) who had a variant of uncertain significance. Of the 6 women with deleterious mutations, only 1 had a first-degree relative with breast or ovarian cancer, and 4 had mutation probabilities &lt;10%. Conclusions: This project demonstrates how an integrated care approach and EMR system provide an opportunity to identify and contact women who are at increased risk for inherited cancer susceptibility.