Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers
In conclusion, most women decided to withdraw from PGD instead of continuing until a successful conception was achieved. Those who opted for PGD attributed their discontinuation of further screening to the emotional burden that is greatly intensified by practical difficulties. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - March 5, 2017 Category: Genetics & Stem Cells Source Type: research
Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark
This study reports the translation and adaptation of the GCOS-24 for use in Denmark. GCOS-24 was translated and back translated, supervised by an expert committee. Feedback on the first version was collected from genetic counseling patients in qualitative interviews focusing on instructions for use, response options and specific items considered semantically difficult. After further adjustment the adapted and translated version was administered to a second sample of patients, with responses analyzed using descriptive statistics. Eighteen interviews were conducted, and led to adjustment of item wording. Sixty-one patients c...
Source: Journal of Genetic Counseling - March 5, 2017 Category: Genetics & Stem Cells Source Type: research
Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States
AbstractRecognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding...
Source: Journal of Genetic Counseling - March 1, 2017 Category: Genetics & Stem Cells Source Type: research
A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling
The objective of this review was to synthesize evidence on outcomes from randomized controlled trials (RCTs) of genetic counseling to inform clinical practice. Seven databases were searched in conducting this review. Studies were selected for inclusion if they were: (a) RCTs published from 1990 to 2015, and (b) assessed a direct outcome of genetic counseling. Extracted data included study population, aims, and outcomes. Risk of bias was evaluated using the Cochrane Handbook for Systematic Reviews of Interventions guidelines. A review of 1654 abstracts identified 58 publications of 54 unique RCTs that met inclusion criteria...
Source: Journal of Genetic Counseling - March 1, 2017 Category: Genetics & Stem Cells Source Type: research
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & amp; Parkinson ’s Disease
We report a patient presenting with ALS-PDC in whom pathological mutati ons/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying geneti c cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with spora...
Source: Journal of Genetic Counseling - February 28, 2017 Category: Genetics & Stem Cells Source Type: research
Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report
AbstractAs the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Coun...
Source: Journal of Genetic Counseling - February 23, 2017 Category: Genetics & Stem Cells Source Type: research
Experiences of Pre-Implantation Genetic Diagnosis (PGD) in Sweden: a Three-Year Follow-Up of Men and Women
AbstractMen and women with a hereditary genetic disease are faced with different options when they wish to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focused on men and women ’s psychological experiences of PGD three years after applying for PGD. Nineteen women and seventeen men (i.e. seventeen couples and two women) participated. The interviews were analysed by thematic method.It is better to have tried was identified as a master theme, under which came three underlying su...
Source: Journal of Genetic Counseling - February 11, 2017 Category: Genetics & Stem Cells Source Type: research
Analysis of Reimbursement of Genetic Counseling Services at a Single Institution in a State Requiring Licensure
AbstractReimbursement for genetic counseling services was examined at a single institution. Patient encounters utilizing the 96040 CPT ® code from 7/31/2009 through 7/31/2013 were reviewed. Exclusion criteria included billing records of patients seen by a physician the same day, self-pay, Medicaid, and Medicare patients. Of the 8,630 encounters with a genetic counselor, 582 encounters were eligible for review. Descriptive statisti cs (i.e., percentage of encounters receiving some level of reimbursement, average reimbursement rate, number of third party payors providing any level of reimbursement, and number of ICD-9 codes...
Source: Journal of Genetic Counseling - February 7, 2017 Category: Genetics & Stem Cells Source Type: research
Genetic Counseling for Alcohol Addiction: Assessing Perceptions and Potential Utility in Individuals with Lived Experience and Their Family Members
AbstractThough addictions to substances including alcohol are highly heritable, there have been no studies regarding the possible applicability of genetic counseling to this set of conditions. Adults ( ≥18 years old) with a personal and/or family history of alcohol addiction were recruited to participate in an online survey-based study comprising 43 questions about beliefs/concern about recurrence risk and etiology of alcohol addiction and its impact on childbearing decisions, and perceptions o f potential utility of genetic counseling for alcohol addiction. We applied primarily descriptive statistics, but also tested t...
Source: Journal of Genetic Counseling - February 6, 2017 Category: Genetics & Stem Cells Source Type: research
A Rapid Systematic Review of Outcomes Studies in Genetic Counseling
AbstractAs healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outco...
Source: Journal of Genetic Counseling - February 5, 2017 Category: Genetics & Stem Cells Source Type: research
“They Just Want to Know” - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status
AbstractIn the context of a child being diagnosed with a genetic condition, reports from both parents and health professionals suggest many genetic health professionals are reluctant to provide carrier testing for unaffected siblings, despite the lack of evidence of harm. We propose that genetic health professionals ’ understandings of why parents want to have their children tested may contribute to their reluctance to test. We draw on interviews with 17 genetic health professionals, reporting their beliefs about parents’ motivations for testing and their intentions to communicate results to their children. Data were a...
Source: Journal of Genetic Counseling - February 3, 2017 Category: Genetics & Stem Cells Source Type: research
The Role of Knowledge on Genetic Counseling and Testing in Black Cancer Survivors at Increased Risk of Carrying a BRCA1 / 2 Mutation
AbstractGenetic counseling and testing (GCT) for hereditary breast and ovarian cancers (HBOC) can inform treatment decisions in survivors. Black women at risk of HBOC have lower GCT engagement. There is limited data about Black survivors ’ experiences. The goals of this study were to: 1) examine the factors associated with HBOC knowledge and 2) assess the impact of knowledge on GCT engagement in a sample of Black survivors at risk of HBOC. Fifty Black at-risk breast/ovarian cancer survivors participated in a telephone-based survey . GCT use was measured across a continuum (awareness, referral, and use). The primary predi...
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
Risk for Patient Harm in Canadian Genetic Counseling Practice: It ’s Time to Consider Regulation
AbstractWith the increasing awareness of genetic contributions to disease in Canada, the availability of and demand for genetic testing has soared. Genetic counseling is becoming a recognized and rapidly growing (yet unregulated) health profession in Canada. We hypothesized that the potential risk for harm to the public posed by genetic counseling practice in the province of Ontario is sufficient to consider regulation. The Ontario Ministry of Health and Long-Term Care (MOHTLC) sets criteria (both primary and secondary) to identify health professional bodies that meet the threshold for regulation in the province. We develo...
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age
We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regr ession models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to the...
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
Is there a Role for Genetic Counselors in Prenatal Paternity Testing? – an Assessment Based on Audit of 13 years of Clinical Experience in South Australia
AbstractThe role of genetic counselors in prenatal paternity testing has not been widely studied in the genetic counseling literature. In South Australia, the genetic counselors of the State ’s public sector clinical genetics service are the primary contact point for women seeking information and testing, also coordinating the testing process. This has provided the opportunity to review all prenatal paternity testing performed in the State over a 13 year period and to consider the ro le played by the genetic counselor. We explored the reasons why women requested prenatal paternity testing and whether the genetic counsel...
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
