Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience
This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not hadRET gene testing, as well as patients who had positiveRET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation. The query identified 142 patients with MTC. Fifty-six (40%) of those patients had not had the RET testing that all endocrine professional groups r...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Adopted Individuals ’ Views on the Utility and Value of Expanded Carrier Screening
This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient’s reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful. Adult adoptees (N = 124) were recruited online. Their opinions on ECS were explored. The majority reported they had never been offered carrier screening (92%). The majority of adoptees wanted ECS (76%). Neither the amount of contact with bio...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation
This report details a child previously diagnosed with long QT syndrome type 4 by chromosomal microarray who was then subsequently managed for this disease by cardiac providers with insufficient expertise to critically review and question the genetic testing results. The patient was eventually referred to a pediatric electrophysiology team as part of a larger multidisciplinary cardiovascular genetics program, composed of specialist genetic counselors, cardiologists, and clinical geneticists. Advanced review and clinical evaluation raised concern about the initial genetic testing result and diagnosis. Complementary testing w...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Correction to: Talking with Children about Adult-Onset Hereditary Cancer Risk: A Developmental Approach for Parents
The original article [1] was initially published with the following list of authors: Allison Werner-Lin, Shana L. Merrill, and Amanda C. Brandt. This author list is now corrected as follows: Allison Werner-Lin, Shana L. Merrill, Amanda C. Brandt, Rachel E. Barnett,& Ellen T. Matloff. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Issue Highlights
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers
AbstractWomen with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 orBRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female ...
Source: Journal of Genetic Counseling - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Patients ’ Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing
AbstractThis paper explores patients ’ views and experiences of undergoing treatment-focusedBRCA1 andBRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients ’ views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways. Patients ...
Source: Journal of Genetic Counseling - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings
AbstractAn environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS. The E...
Source: Journal of Genetic Counseling - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service
In conclusion, appointment waiting time is a significant predictor for pati ent attendance. Strategies to ensure patients receive an appointment within the necessary timeframe at the desired setting are important to ensure that individuals at increased cancer risk attend their appointments in order to manage their cancer risks effectively. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Adopted Individuals ’ Views on the Utility and Value of Expanded Carrier Screening
This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient’s reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful. Adult adoptees (N = 124) were recruited online. Their opinions on ECS were explored. The majority reported they had never been offered carrier screening (92%). The majority of adoptees wanted ECS (76%). Neither the amount of contact with bio...
Source: Journal of Genetic Counseling - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Correction to: Talking with Children about Adult-Onset Hereditary Cancer Risk: A Developmental Approach for Parents
The original article [1] was initially published with the following list of authors: Allison Werner-Lin, Shana L. Merrill, and Amanda C. Brandt. This author list is now corrected as follows: Allison Werner-Lin, Shana L. Merrill, Amanda C. Brandt, Rachel E. Barnett,& Ellen T. Matloff. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - October 31, 2018 Category: Genetics & Stem Cells Source Type: research
Issue Highlights
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - October 12, 2018 Category: Genetics & Stem Cells Source Type: research
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
In this study, we used the Genetic Counseling Outcome Scale (GCOS-24) to assess levels of empowerment and support group participation in 35 adult participants and 67 parents of child participants in the Undiagnosed Diseases Network (UDN) prior to their UDN in-person evaluation. Our results revealed significantly lower empowerment scores on the GCOS-24 in adult participants compared to parents of child participants [t(100) = − 3.01,p = 0.003, average difference = − 11.12, 95% CI (− 3.78, − 18.46)] and no significant association between support group participation and empowerment scores. The majo...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
The Process of Disclosure: Mothers ’ Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters
AbstractWhen a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed ab...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Informed Decision-Making in the Context of Prenatal Chromosomal Microarray
AbstractThe introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amnioce...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
