Exploration of Male Attitudes on Partnerships and Sexuality with Female <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Women with BRCA mutations are inundated with decisions about managing cancer risks and childbearing considerations. Decisions become more complicated when women face disclosing their mutation and risk-reduction options to a romantic partner. This study identifies the concerns and perspectives of male romantic partners regarding these unique decisions. Twenty-five male participants completed an online survey posted to cancer support group message boards. Participants reported relationship changes regarding intimacy levels (n?=?9), attraction (n?=?2), and communication (n?=?22) after mutation disclosure. Participants whose partners had not undergone prophylactic mastectomy (n?=?14) reported concerns regarding sexual relations (n?=?5), post-surgical appearance (n?=?2), post-surgical attraction (n?=?5), and health/lifespan (n?=?9). Participants did not express attitude changes toward childbearing. While mutation disclosure conversations and surgical options are concerns for many BRCA mutation carriers in relationships, male partners share these concerns. Aspects of the relationship may change, but male study participants continued to support their partners. This information can benefit female BRCA mutation carriers, their current or future partners, and genetic counselors working with this particular population.     

Young Adults’ Pre-Existing Knowledge of Cystic Fibrosis and Sickle Cell Diseases: Implications for Newborn Screening

Parental distress following newborn screening is thought to result from inadequate preparation for screening results which can result in maladjustment to screening results after birth. Although prior awareness of relevant genetic disorders such as cystic fibrosis and sickle cell diseases, and preparedness for screening is suggested to enhance information uptake and reduce parental distress, little is known about how young adults’ prior knowledge prepares them for screening or affects the assimilation and retention of screening information. Thirty-four young adults, without familial genetic disease or screening experience took part in one of seven focus groups which examined knowledge of cystic fibrosis and sickle cell diseases and ability to assimilate new disease information. Thematic analysis revealed that adults had limited understanding of how cystic fibrosis and sickle cell diseases were inherited or how symptoms manifest, leaving them inadequately prepared for screening results if they do not engage with information interventions. Further, they selectively assimilated new disease information and had difficulty understanding new information in the absence of prior disease knowledge. Young adults’ prior disease knowledge should be considered within a newborn screening context and written materials should consider the inclusion of carrier statistics to improve information relevance.     

What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?

This study explores the attitudes of parents of children with Down syndrome towards non-invasive prenatal testing (NIPT) and widening the scope of prenatal screening. Three focus groups (n = 16) and eleven individual interviews with Dutch parents (and two relatives) of children with Down syndrome were conducted. Safety, accuracy and earlier testing were seen as the advantages of NIPT. Some participants were critical about the practice of screening for Down syndrome, but acknowledged that NIPT enables people to know whether the fetus is affected and to prepare without risking miscarriage. Many feared uncritical use of NIPT and more abortions for Down syndrome. Concerns included the consequences for the acceptance of and facilities for children with Down syndrome, resulting in more people deciding to screen. Participants stressed the importance of good counseling and balanced, accurate information about Down syndrome. Testing for more disorders might divert the focus away from Down syndrome, but participants worried about “where to draw the line”. They also feared a loss of diversity in society. Findings show that, while parents acknowledge that NIPT offers a better and safer option to know whether the fetus is affected, they also have concerns about NIPT’s impact on the acceptance and care of children with Down syndrome.     

Risk Reduction Behaviors and Provider Communication Following Genetic Counseling and BRCA1 Mutation Testing in an African American Kindred

Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial and ethnic subgroups. This prospective observational study examined use of risk reduction strategies following BRCA1 counseling and testing. Participants were female members of an African American kindred who received genetic education, counseling and testing (n = 40) and completed a 1-year follow-up interview. Mutation carriers were more likely to opt for breast (100%, 7/7) and ovarian (25%; 1 of 4) cancer surveillance than prophylactic surgery. Following genetic counseling, 71% (5/7) of the BRCA1 carriers who opted for surveillance reported having a mammogram within the year following receipt of their genetic test results. Ovarian cancer screening among mutation carriers increased from 0% at baseline to 25% (one of four) at 1 year. Compared to noncarriers (23%, 7/30), carriers (70%, 7/10) were more likely to discuss their BRCA1 test results with their primary health care providers. Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal.     

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

Genomic microarray may detect susceptibility loci (SL) for neurodevelopmental disorders such as autism and epilepsy, with a yet unquantifiable risk for the fetus. The prenatal disclosure of susceptibility loci is a topic of much debate. Many health care professionals fear that reporting susceptibility loci may put a psychological burden on pregnant couples. It is our policy to disclose prenatal susceptibility loci as we recognize them as actionable for prospective parents. The aim of this report was to evaluate the psychological impact of disclosing a prenatal diagnosis of susceptibility loci. The psychological impact of disclosing susceptibility loci was evaluated in the first patients who received such results. Eight out of 15 women who had a susceptibility locus disclosed and four of their partners consented to share their experiences through a telephonic evaluation (n?=?12). Follow-up time ranged from 3 to 15 months after their prenatal test result. The reporting of susceptibility loci was initially ‘shocking’ for five parents while the other seven felt ‘worried’. Ten out of 12 participants indicated they would like to be informed about the susceptibility locus again, two were unsure. Most had no enduring worries. Participants unanimously indicated that pregnant couples should have an individualized pre-test choice about susceptibility loci (non)disclosure. We observed no negative psychological impact with the prenatal diagnosis and disclosure of SL on participants. A key factor in mitigating parental anxiety with SL disclosure appears to be post-test genetic counseling. Our report confirms that pregnant women and their partners prefer an individualized choice regarding the scope of prenatal testing.     

Adjunct Prenatal Testing: Patient Decisions Regarding Ethnic Carrier Screening and Fluorescence In Situ Hybridization

Little has been reported regarding how women make decisions about genetic carrier screening for Ashkenazi Jewish genetic disease and cystic fibrosis (CF), and for fluorescent in situ hybridization (FISH) during pregnancy. Thirty-seven women who underwent genetic counseling and prenatal diagnosis were interviewed about their prenatal decision making. Respondents were largely Caucasian (95%), and undergoing prenatal diagnosis because of maternal age (78%). Sixty-three percent of those who reported having genetic carrier screening correctly defined it; 83% felt positively about it. Primary reasons reported for electing screening were: to get information, to be prepared, perception of risk, wanting peace of mind and percieved inability to care for an affected child. Women who declined screening felt they had very little or no risk, and some were deterred by cost. Ninety-five percent of respondents elected to have FISH; most were motivated by its speed in providing information and peace of mind or by timing of when the procedure was performed. Those who declined FISH reported being less concerned about having an affected child, receiving bad news, or waiting 2 weeks for results and slightly less affected by their feelings toward medical testing or physician's suggestion. These findings suggest decision-making factors differ between those electing and declining adjunct prenatal testing and increased knowledge about these factors may impact the way in which these services are offered by health care professionals. Prospective research with a larger population will be useful in further delineating the factors that influence prenatal decisions about adjunct testing measures.     

Disparities in Current and Future Childhood and Newborn Carrier Identification

International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn’s, but not older child’s carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.     

Attitudes Toward Autism Spectrum Disorders Among Students of Allied Health Professions

The prevalence of autism has increased dramatically. The objectives of this study were to explore attitudes toward prenatal diagnosis to detect autism prenatally and avoid having an affected child and to understand social acceptability of these disorders among students of allied health professions. In this study, college students of nursing and health systems management answered a structured self-report questionnaire (n?=?305). The first part addressed the respondent’s personal data. The second part targeted the respondent’s attitudes toward prenatal diagnosis of non-life-threatening disorders, including autism spectrum disorders. We found that almost two thirds of the students responded that they would not proceed with a pregnancy if the child were diagnosed with autism, and more than half thought that they would not continue with a pregnancy if the fetus were diagnosed with Asperger’s. Age, level of religiosity, and years of education were influential. This study is limited in scope; however, the positive attitude of the students toward prenatal diagnosis to avoid having an affected child might also reflect a negative view of autism spectrum disorders in future health care professionals. Further research of attitudes and the social acceptability of autism spectrum disorders, particularly among health care professionals, is required.     

Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis

The identification of the common mutations of the cystic fibrosis (CF) transmembrane conductance regulator gene has made it feasible to consider population-based CF carrier screening. However, the demand for such programs will depend largely on the attitudes and perceptions of the general public toward genetic testing. As part of a high school science project, we initiated studies to determine the attitudes of high school students toward carrier screening for CF and other genetic disorders. From a class of 120 biology students, 101 consented to participate in the study. Most of the students were of European ancestry and there were no known family histories of CF. Buccal swabs were obtained for PCR amplification and heteroduplex detection of the most common CF mutation (F508). The students and their corresponding buccal swabs were assigned random numbers and the results were kept confidential unless the student requested his/her test result. A questionnaire was used to assess the students' attitudes toward carrier screening and prenatal diagnosis. This questionnaire was given both before testing and after the class was informed that three individuals were carriers of the F508 mutation. Overall, the data indicate that high school students are receptive to the concepts of carrier screening and prenatal diagnosis. However, their attitudes changed considerably when informed of the possibility that they might actually be a F508 carrier, with marked increases in the level of indecision. At the conclusion of the study, very few students (5/101) requested information about their F508 carrier status.     

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.     

Psychiatric Comorbidity in Children with Autism Spectrum Disorders: A Comparison with Children with ADHD

The present study was conducted with the aim to identify comorbid psychiatric disorders in children with autism spectrum disorders (ASD) (n = 40) and to compare those comorbidity rates to those in children with attention deficit hyperactivity disorder (ADHD) (n = 40). Participants were clinically referred children aged 7–18 years. DSM-IV classifications were used for the primary diagnosis (ASD/ADHD), while comorbid psychiatric disorders were assessed using a structured diagnostic interview, the structured clinical interview for DSM-IV, childhood diagnoses (KID-SCID). Twenty-three children with ASD (57.5 %) had at least one comorbid disorder, whereas 16 children with ADHD (40.0 %) were classified as having at least one comorbid disorder. No group differences were found with respect to this comorbidity rate or for the rate of comorbid externalizing disorders (ODD and/or CD). However, children with ASD had more comorbid internalizing disorders compared to children with ADHD. More specifically, children with ASD had higher rates of anxiety disorders, but not mood disorders. No associations between comorbidity and age or between comorbidity and the intelligence quotient was found. It is important for clinicians to always be aware of, and screen for, comorbidity, and to consider treatment for these comorbid disorders. In addition, research should focus on establishing valid and reliable screening tools as well as effective treatment options for these comorbid disorders.     

Informing Children of Their Newborn Screening Carrier Result for Sickle Cell or Cystic Fibrosis: Qualitative Study of Parents’ Intentions,Views and Support Needs

Newborn screening for cystic fibrosis and sickle cell disease enables the early identification and treatment of affected children, prolonging and enhancing their quality of life. Screening, however, also identifies carriers. There are minimal or no health concerns for carriers. There are, however, potential implications when carriers reach reproductive age, and thus research attention has been given to how best to convey information about these implications in a meaningful, balanced way which does not raise undue anxieties. Most research focuses on the communication from health professional to parent, yet ultimately this information is of greatest significance to the child. This study examines parents’ intentions to inform their child of newborn screening carrier results. Semi-structured interviews with 67 family members explored their intentions to inform the child, and related views and support needs. Parents almost unanimously indicated they planned to inform the child themselves. Health professionals were expected, however, to provide guidance on this process either to parents through advice and provision of written materials, or directly to the child. Although parents initially stated that they would convey the result once their child had developed the ability to understand the information, many appeared to focus on discrete life events linked to informed reproductive decision making. The results highlight ways in which health care providers may assist parents, including providing written material suitable for intergenerational communication and ensuring that cascade screening is accessible for those seeking it. Priorities for further research are identified in light of the results.     

Spanish- and English-Speaking Pregnant Women’s Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers’ advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.     

Family Communication of BRCA1/2 Results and Family Uptake of BRCA1/2 Testing in a Diverse Population of BRCA1/2 Carriers

Previous studies examining communication of BRCA1/2 results with relatives and family uptake of BRCA1/2 testing have sampled from predominantly white, high SES cohorts ascertained solely from tertiary care centers. No studies have focused on family communication and testing among relatives of diverse BRCA1/2 carriers. We conducted structured interviews with 73 BRCA1/2 carriers identified at a public hospital and a tertiary cancer center. We asked participants if each first- and second-degree relative was aware of their BRCA1/2 results and whether or not each relative had tested. Generalized estimating equations identified rates and predictors of family communication and testing. Participants disclosed their test results to 73 % of 606 eligible relatives and 31 % of 514 eligible relatives tested. Communication and testing rates were similar for relatives of participants from the public hospital and the tertiary cancer center. Hospital site was not a significant predictor of either result disclosure or relative uptake of testing. African American and Asian/Pacific Islander participants were significantly less likely to disclose their results to their relatives; relatives of African American participants were significantly less likely to test. Addressing these disparities will require further research into the best ways to facilitate family communication and counsel at-risk relatives of racially and socioeconomically diverse BRCA1/2 mutation carriers.     

Student-Athletes’ Views on <Emphasis Type="Italic">APOE</Emphasis> Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury

Use of apolipoprotein E genotyping to personalize the risk of a poor recovery after traumatic brain injury is complicated by the potential for genetic discrimination and the potential to reveal an increased risk for late onset Alzheimer’s disease. We developed a survey to gauge interest in testing among athletes participating in National Collegiate Athletic Association programs. Eight hundred and forty seven student-athletes were surveyed to determine their interest in genetic testing, their willingness to share the results of testing with parents, coaches and physicians, their concerns about privacy and/or discrimination, and their interest in genetic counseling. Nearly three quarters of respondents expressed some level of interest in testing, with the largest number describing themselves as ‘possibly interested’ (54.9 %, n = 463) and a smaller number describing themselves as ‘very interested’ (18.9 %, n = 159). Most student-athletes said that receiving secondary information about their risk for late-onset Alzheimer’s disease made them more likely to test (50.6 %, n = 426) rather than less likely to test (12.4 %, n = 104). Student-athletes were open to apolipoprotein E genotyping and willing to share test results with their parents, coaches and physicians. They did not anticipate that test results would impact their behavior or ability to play. Testing programs may be welcome but should provide clear information as to risks and benefits.     

Attitude of Medical School Students in China Towards Genetic Testing and Counseling Issues in FXS

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. However, genetic testing protocols and genetic counseling guidelines for FXS are not yet established in mainland China. In the present study, we conducted a comprehensive analysis using a self-administered questionnaire among students at the Xiangya medical school to investigate their attitude towards genetic testing and counseling issues of FXS. We have gained a general understanding of the attitudes of medical students towards these FXS issues in China. This information is of immense importance to develop appropriate genetic tests and to train counselors for FXS. As the medical school students surveyed are prospective physicians who will be a part of the Chinese health system, our survey was focused on the basic knowledge of FXS, population-based FXS screening, confidentiality and reproductive options for mutation carriers. The study demonstrated that only less than one third of the participants had heard about FXS. 94.6 % of participants were in favor of FXS screening for women in their reproductive age who had a genetic history of FXS. Furthermore, only half of the participants would inform their families about their genetic status in case of positive test results, and more than half of the participants supported natural conception and prenatal diagnosis for FXS mutation carriers. Additional findings and research implications are also discussed. This survey targeting potential doctors provides important information for the development of FXS genetic test and counselor training for the Chinese health system.     

Attitudes and Knowledge of Maternal-Fetal Medicine Fellows Regarding Noninvasive Prenatal Testing

Using cell-free DNA in maternal serum to detect fetal aneuploidy has been shown to have high sensitivity and specificity. The purpose of this study was to assess attitudes and knowledge of Maternal-Fetal Medicine (MFM) fellows regarding noninvasive prenatal testing (NIPT). A 13 question survey was sent via listserv to US-based MFM fellows. One hundred sixteen fellows responded, a 42.3 % response rate, with >75 % reporting they are comfortable ordering NIPT. Most (82 %) preferred that a patient discuss options with a provider or genetic counselor. Three common methods used to learn about NIPT were: formal educational activities (n?=?78, 69 %), self-review of the literature (n?=?76, 67 %), and discussions with peers (n?=?73, 65 %). On questions related to trisomy 21, accuracy was >70 %. However, accuracy was lower regarding use in twin pregnancies (42 %) and monosomy X screening (50 %).     

Attitudes toward genetic testing for cystic fibrosis among college students

The knowledge and attitudes of 25 college students toward clinical and genetic aspects of cystic fibrosis (CF) were assessed before and after an 80-minute presentation about the disease. The students were asked about their plans regarding genetic testing for cystic fibrosis prior to, and during future conceptions. While their knowledge about the disease increased significantly following the lecture, there were no significant changes in their attitudes.