Lived experiences of individuals with cystic fibrosis on CFTR-modulators.

BACKGROUND: CFTR-modulators are a category of drugs that facilitate trafficking and opening of the abnormal CFTR protein in individuals with cystic fibrosis (CF) who have certain genetic mutations. Clinical trial data show that individuals taking CFTR-modulators have increased or stable lung function (FEV1) as well as reduced frequency of pulmonary exacerbations. There are no data on whether CFTR-modulators influence psychosocial aspects of the lives of individuals with CF. The purpose of this qualitative study was to explore how the introduction of CFTR-modulators has affected individuals' lived experiences outside of clinical health variables; that is, to explore whether there is a relationship between using CFTR-modulator drugs and the psychological and social aspects of the lives of individuals with CF, including: career, relationships, family planning and psychological functioning. METHODS: Eight men and women with CF ages 24-32, with a history of taking any approved CFTR-modulator for at least six months, were recruited from an adult CF center. A semi-structured interview guide was used to interview the participants. The data were coded using a grounded theory approach with an iterative methodology. RESULTS: Four themes emerged from the data: stability, identity, potentiality, and hope. CONCLUSIONS: Although these themes cannot be generalized to all individuals with CF, this study provides preliminary data for how CFTR-modulators may influence an individual with CF's outlook on life and that these individuals are feeling hopeful about the future.

Practices in synagogues regarding Jewish genetic disease education.

Approximately one in three Ashkenazi Jews are carriers for an autosomal recessive Jewish genetic disease (JGD). However, studies indicate that most Jews are uneducated on this topic and obstetricians do not routinely offer carrier screening to Jewish patients. Both the Reform and Conservative movements of Judaism call for JGD education to take place within the synagogue; however, little is known about the extent of this education occurring today. An online survey was created for Reform and Conservative rabbis to assess the types of JGD education taking place within the synagogue. Additionally, the survey included questions to assess JGD knowledge and possible factors that could predict counseling activity and knowledge level. Of the 94 participants, 91% had provided education about JGDs to congregants, with 98.8% providing this education during premarital counseling sessions. For most respondents, explaining recessive inheritance pattern and carrier screening was the extent of the discussion. Additionally, the majority of rabbis scored below 50% on the knowledge portion of the survey, with an average score of 1.9/4. There were no statistically significant differences between JGD education in Reform vs. Conservative synagogues, and there were no statistically significant predictors of knowledge score or JGD education frequency. In conclusion, while the number of rabbis discussing this topic is encouraging, discussion topics were found to be limited and their knowledge of JGDs was found to be poor.

The current state of genetic counseling assistants in the United States.

Genetic counseling assistants (GCAs) have the potential to address the high demand for genetic counselors by promoting task-sharing, increasing genetic counselor efficiency, and allowing for higher level duties to be optimized by genetic counselors. However, little research has been published on the role of GCAs. This study explored current tasks of GCAs in the United States, the appropriateness of those tasks, the perceived impact on the profession, and how these findings compared between genetic counselors with and without GCAs. Full members of the National Society of Genetic Counselors (NSGC) with and without experience working with GCAs were recruited via the NSGC Student Research listserv to complete an online survey and 271 surveys were analyzed. Participants working in both clinical and laboratory settings and in all primary specialties reported working with GCAs (n = 131); GCAs were reported to frequently perform clerical tasks but were involved less often in clinical tasks such as calling patients with genetic test results. There was no difference between participants with GCAs and those without GCAs in tasks they reported GCAs are or may be performing, yet participants without GCAs believed GCAs performed more tasks on average than those with GCAs reported (p < 0.001). Participants did not differ on the appropriateness of tasks, reporting clerical tasks as more appropriate for GCAs than clinically involved tasks, with the exception of calling patients with variant of uncertain significance (VUS) results in which more participants working with GCAs reported it as an appropriate task (13%) than those without GCAs (4%; p < 0.05). Review of open-ended responses revealed themes pertaining to primary limitations, benefits, and concerns of the GCA role. The most commonly reported concern about GCAs was their poorly defined scope of practice (n = 182). Other reported limitations included a heavy workload, lack of training, and lack of experience for GCAs while the benefits of working with GCAs included increased time available for higher level duties, patient volumes, and efficiency. These data provide genetic counselors, their institutions, and the NSGC with a more generalizable understanding of current GCA roles on a national level, across specialties. Additionally, these data may help establish a scope of practice for GCAs by creating a baseline job description for genetic counselors and their institutions interested in implementing a GCA into their practice to increase patient access to genetic counseling services. It is recommended that further research objectively quantify the value added by GCAs using efficiency metrics and further clarify the role of laboratory GCAs.

An assessment of health, social, communication, and daily living skills of adults with Down syndrome.

Adults with Down syndrome (DS) are surviving longer, yet data delineating life skills are lacking. As providers are encouraged to provide a "balanced" description of DS to family members/caregivers, more quantitative data are required to accurately describe the abilities and potential of adults with DS. This study assessed health, social, communication, and daily living skills of adults with DS to describe the range of abilities and to show how increasing age contributes to functional abilities. Caregivers of an adult with DS 20 years of age or older participated in an online questionnaire. Descriptive statistics and scores from scales assessed relationships between the number of health issues reported and functional abilities, and how the abilities changed as age increased. Of 188 participants, 157 completed the survey with partial results included. Communication, independence, and social activity scores were compared to the number of congenital and non-congenital health issues reported. Linear regression results showed those with more health issues were significantly less likely to be independent and social. However, only current health issues affected communication skills. No significant correlation occurred between the number of congenital abnormalities and scores for independence/life skills as an adult. T-test by age group found decreasing abilities after 40 years of age. In conclusion, quantitative data and information from this study is beneficial for providers in order to describe the potential for an individual with DS and to assist caregivers to plan accordingly for the future of their adult with DS.

How Might the Genetics Profession Better Utilize Social Media.

Social media is a common method of communication in people's personal lives and professional settings. Gallagher et al. (2016) recommended, "it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals." Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.

Genomic counseling in the newborn period: experiences and views of genetic counselors.

As newborn screening (NBS) technology expands, genetic counselors will become more involved in counseling for NBS results, including those potentially generated from whole exome sequencing (WES) and eventually whole genome sequencing (WGS). Members of the National Society of Genetic Counselors (NSGC) responded to an online survey (n=208) regarding genomic counseling in the context of NBS. The majority of participants (82.1 %) did not feel prepared to counsel for WGS results from NBS. Counselors with previous WES/WGS counseling experience felt more prepared (p= 0.005) to counsel for WGS results from NBS than those without WES/WGS experience. Overall, counselors expressed ethical and practical concerns regarding WGS in NBS, as well as a need for additional training regarding this application of the technology before it is implemented. Based on the results of this study, genetic counselors voice caution to the larger genetics community regarding expansion of NBS to incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS.

What's new in prenatal screening and diagnosis?

This article provides clinicians with an overview of current methods for prenatal genetic screening and diagnosis. Topics include developments in prenatal screening procedures such as ethnicity-based carrier testing, maternal serum screening, and ultrasonography. Diagnostic alternatives to amniocentesis include chorionic villus sampling and preimplantation diagnosis. Future endeavors such as three-dimensional ultrasonography and fetal cell sorting are discussed.

Clinical consult: developmental delay/fragile X syndrome.

Fragile X syndrome is an X-linked disorder characterized primarily by speech delay and moderate mental retardation. The incidence of fragile X syndrome is estimated at 1/4000-1/6000 males and half that for females. This article presents a case study of fragile X syndrome, describing the genetics and inheritance, disease characteristics,natural history, diagnosis, differential diagnosis, and management.

Clinical consult: Marfan syndrome.

Marfan syndrome is a heritable disorder of connective tissue. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic,or ethnic predilection. If unrecognized, patients with Marfan syndrome can have life-threatening cardiovascular complications. Identification and proper management of the disorder can improve the prognosis greatly, however, and extend the patient's life span. This article presents a case study of Marfan syndrome, describing disease characteristics and natural history, inheritance and genetics, diagnosis,differential diagnosis, and management.

Clinical consult: iron overload--hereditary hemochromatosis.

One of the most common genetic causes of iron overload is hereditary hemochromatosis (HHC), a condition characterized by overabsorption of dietary iron from the gastrointestinal tract. This condition can lead to excessive iron accumulation with resulting dysfunction in multiple organs, including the liver, skin, heart,joints, pancreas, and testes. The clinical consequences of HHC if undetected and untreated can be severe and include liver cirrhosis,hepatocellular carcinoma, diabetes mellitus, cardiac arrhythmias and failure, arthritis, and hypogonadism. HHC is one of the most common heritable conditions in white populations of Northern European origin. This article presents a case study of HHC, describing inheritance and genetics, disease characteristics and natural history, diagnosis, differential diagnosis, and management.

Duty to warn at-risk relatives for genetic disease: genetic counselors' clinical experience.

When a patient refuses to inform relatives of their risk for genetic disease, the genetic healthcare professional is faced with conflicting ethical obligations. On one side of the issue is the obligation to respect and protect patients' right to privacy. On the other side is the obligation to prevent harm and promote the welfare of the family members, which suggests a responsibility to warn at-risk relatives, even without the patient's consent. In an effort to examine the actual clinical impact of this issue, we conducted a pilot study that explored genetic counselors' experience with this conflict. A survey was developed and made available to members of the National Society of Genetic Counselors. Questions were either multiple-choice responses or open-ended. Almost half of respondents (119/259; 46%) had had a patient refuse to notify an at-risk relative. The most commonly cited reasons for refusal were estranged family relationships, altering family dynamics, insurance discrimination, and employment discrimination, respectively. Of these 119 counselors, 24 (21%) reported that they seriously considered warning the at-risk relatives without patient consent, and one actually did disclose. Three factors consistently made the counselors less likely to disclose: their patient's potential emotional reaction, the relationship between the relative and patient, and the chance that the relative could be aware of the disease by another means. These results suggest that while the conflict is often encountered in clinical practice, it is rare that the situation remains unresolved to the extent that genetic counselors actually consider warning at-risk relatives. However, when the situation was encountered, the counselors in this study reported a lower rate of disclosure without consent than would have been anticipated based on previous studies that used hypothetical situations. It may be that counselors do not recognize a duty to warn at-risk relatives as integral to their role and professional obligations.

Medical Geneticists' duty to warn at-risk relatives for genetic disease.

A patient who refuses to notify their relatives of potential at-risk status brings a genetics provider to face conflicting ethical principles and ill-defined legal precedent. Genetics professionals' views on the disclosure of patient information to at-risk relatives have remained largely unexamined. Prior analyses have been limited to identifying factors contributing to genetics providers' self-predicted responses in hypothetical scenarios. Our group was the first to examine the clinical experience of genetic counselors with this issue [Dugan et al., 2003]. We report here results from our follow-up survey of medical geneticists who are members of either the American Society of Human Genetics and/or American College of Medical Genetics in an effort to identify their experiences in warning at-risk relatives and the factors driving their decision-making processes. Over two-thirds of medical geneticists surveyed (69%, 143/206) believe they do bear responsibility to warn their patients' relatives when found to be at-risk for genetic disease. One-quarter (25%, 31/123) of medical geneticists who faced the dilemma of a patient refusing to notify their at-risk relatives seriously considered disclosure to those at-risk relatives without patient consent. Only four respondents proceeded to warn at-risk relatives of their status. Whereas genetic counselors cited emotional issues as playing a primary role in their decision not to warn, medical geneticists identified patient confidentiality, eventual case resolution by other means, and legal liability as the major factors leading to non-disclosure in 76% of actual scenarios. Responsibilities of medical geneticists, genetic counselors, and non-genetics healthcare professionals facing this issue will need to be more clearly defined to provide optimal medical care within the bounds of acceptable practice.