Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges

PurposeRoutine screening for evidence of DNA mismatch repair abnormalities can identify colorectal cancer patients with Lynch syndrome, but impact in usual care settings requires study. After implementing routine screening at our university and safety-net health systems as usual practice, our aims were to determine outcomes, including screening process quality.MethodsWe conducted a retrospective cohort study from 1 May 2010 to 1 May 2011. Screening included reflexive immunohistochemistry to evaluate DNA mismatch repair protein expression for patients with colorectal cancer aged ≤70 years, with a cancer genetics team following up results. Screening outcomes, as well as challenges to a high-quality screening process were evaluated.ResultsWe included 129 patients (mean age 56 years, 36% female); 100 had immunohistochemistry screening completed. Twelve patients had abnormal immunohistochemistry: four with definite Lynch syndrome, four with probable Lynch syndrome, and three without Lynch syndrome; one patient had an incomplete work-up. Lynch syndrome was confirmed for 6/13 asymptomatic relatives tested. Screening process quality was optimal for 77.5% of patients. Barriers to optimal quality screening included ensuring reflexive immunohistochemistry completion, complete follow-up of abnormal immunohistochemistry, and timely incorporation of results into clinical decision making.ConclusionUsual care implementation of routine screening for Lynch syndrome can result in significant rates of detection, even in a largely safety-net setting. To optimize implementation, challenges to high-quality Lynch syndrome screening, such as ensuring reflexive screening completion and clinically indicated genetic testing and follow-up for abnormal screens, must be identified and addressed.Genet Med15 12, 925–932.     

The impact of false-positive newborn screening results on families: a qualitative study

PurposeNewborn screening leads to improved treatment and disease outcomes, but false-positive newborn screening results may cause distress for parents. The purpose of this study was to describe the experiences of families who receive a false-positive newborn screening result in an attempt to discover ways to help improve the newborn screening communication process for families.MethodsThis was a qualitative study using two methods of data collection: in-depth, semistructured interviews and focus groups. Participants (N = 27) were parents whose children (ages 6–16 months) underwent follow-up testing after newborn screening and whose follow-up test results indicated that the newborn screening result was a false-positive.ResultsOur analysis found that parents who have a false-positive newborn screening result experience five distinct stages. Most parents did not report long-term negative impacts of the experience, but some experienced some residual worry. Participants described effective provider communication as key in mitigating stress. Some parents identified the experience as leading to positive outcomes.ConclusionIdentifying best practices for communication between the health care providers and parents is an essential component in improving the newborn screening process. Further research is needed to discover best practices for communication to minimize potential harm and maximize the benefits of newborn screening.Genet Med 2012:14(1):76–80     

Long-term follow-up culture in state newborn screening programs

PurposeLong-term follow-up is an increasing focus as newborn screening expands in the United States. The present study informs this issue by examining the role played by organizational culture in shaping the scope and substance of long-term follow-up in state newborn screening programs.MethodsQualitative interviews were conducted with 38 state newborn screening programs.ResultsSeveral key cultural norms were identified within state newborn screening programs that may undermine proactive attempts to conduct long-term follow-up. These include (a) beliefs that place direct patient care and specialist care versus a public health orientation at the center of long-term follow-up; (b) an everyday emphasis on short-term follow-up that obscures the longer-term follow-up focus; and (c) the perception that others are engaged in long-term follow-up at the state level.ConclusionsThe findings support the importance of understanding state newborn screening program culture and how that culture may shape the scope and substance of long-term follow-up in a given state, regardless of the level of staff and resources made available to conduct these activities.     

An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening

The care of individuals with rare heritable conditions, such as those detectable through newborn screening, is an important target for quality improvement. Not only is there great opportunity to improve long-term outcomes, but there are lessons that can be generalized to the care of all children with special health-care needs. To identify an approach to quality improvement for individuals with conditions identified through newborn screening, the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives convened an expert workgroup to develop strategies based on a family-centered, community-based system of care. These recommendations centered on involving families, the primary care medical home, and specialty care providers as equal partners. Key activities to improve care include explicit care coordination, identification of the location of management, and planned co-management. To implement this model of care, the Regional Collaboratives will develop a clearinghouse of tools, engage in activities to evaluate the effectiveness of interventions to improve co-management, and identify strategies to align incentives for health-care providers and families to work together.Genet Med 2013:15(3):174–177     

Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

PurposeTo investigate the 5-year follow-up status for newborns diagnosed with metabolic disorders designated as “primary disorders” on the federal Recommended Uniform Screening Panel (RUSP).MethodsFollow-up status and demographic characteristics are described for 426 newborns diagnosed with one of 20 primary metabolic disorders on the RUSP between 2005 and 2009. Newborn screening program data were linked to birth certificate data. Follow-up status is described for each year through age 5 and by disorder type. Maternal characteristics of those who stayed in active care were compared with those who did not.ResultsOf 426 diagnosed newborns, by the end of 5 years of follow-up 55.2% stayed in active care, 20.4% became lost to follow-up, 8.7% moved out of state, 6.3% were determined to require no further follow-up, 4.7% refused follow-up, and 4.7% died. Among the initial group of disorders with more than 10 diagnosed cases, phenylketonuria (90%) had the highest percentage of patients still in active care after 5 years. Patients in active care had similar characteristics to patients not in active care when maternal age, race/ethnicity, completed education years, and expected source of payment for delivery were compared.ConclusionStaying in active care may associate with disorder type but not maternal characteristics.     

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

PurposePopulation screening for BRCA1/BRCA2. mutations is being considered for Ashkenazi Jews (AJ) because 2.5% carry recurrent deleterious mutations and effective cancer prevention exists. This study aimed to provide a qualitative focus on perspectives of individuals, particularly carriers, who were tested through a screening trial. In this trial, the pretest process included only written information.MethodsInterviews were performed with 26 carriers and 10 noncarriers who participated in a BRCA population screening trial for AJ.ResultsAttitudes toward screening were generally positive. The main motivator for testing was knowledge of BRCA status to enable cancer risk reduction. Knowledge of carrier status, although challenging, was thus viewed as health-empowering. The screening paradigm was sensed as increasing awareness and as overcoming access, referral, and familial barriers. Streamlining the pretest process was positively perceived as offering gradual, stepwise knowledge commensurate with test results. Participants were concerned that health systems provide the necessary conceptual and infrastructural framework and that individual autonomy be maintained.ConclusionsBRCA screening in AJ is viewed favorably, even by carriers. Stepwise acquisition of knowledge based on test results was viewed as most relevant to the screening context. Screening program development should account for safeguarding autonomy and providing requisite post-test services.Genet Med advance online publication 01 December 2016     

Health information exchange interventions can enhance quality and continuity of HIV care

PurposeThe purpose of this article is to describe how comprehensive HIV care is delivered within Ryan White Program (RWP)-funded clinics and to characterize proposed health information exchange (HIE) interventions, which employ technology to exchange information among providers, designed to improve the quality and coordination of clinical and support services.MethodsWe use HIV patient care quality and coordination indicators from electronic data systems to describe care delivery in six RWP demonstration sites and describe HIE interventions designed to enhance that care.ResultsAmong patients currently in care, 91% were retained in care in the previous six months (range across sites: 63–99%), 79% were appropriately prescribed antiretroviral therapy (54–91%) and 52% had achieved undetectable HIV viral load (16–85%). To facilitate coordination of care across clinical and support services, sites designed HIE interventions to access a variety of data systems (e.g. surveillance, electronic health records, laboratory and billing) and focused on improving linkage and retention, quality and efficiency of care and increased access to patient information.DiscussionCare quality in RWP settings can be improved with HIE tools facilitating linkage, retention and coordination of care. When fully leveraged, HIE interventions have the potential to improve coordination of care and thereby enhance patient health outcomes.     

Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children provides guidance to reduce the morbidity and mortality associated with heritable disorders, with a special emphasis on those conditions detectable through newborn screening. Although long-term follow-up is necessary to maximize the benefit of diagnosis through newborn screening, such care is variable and inconsistent. To begin to improve long-term follow-up, the Advisory Committee has identified its key features, including the assurance and provision of quality chronic disease management, condition-specific treatment, and age-appropriate preventive care throughout the lifespan of affected individuals. There are four components central to achieving long-term follow-up: care coordination through a medical home, evidence-based treatment, continuous quality improvement, and new knowledge discovery.     

Effects of a leaflet on breast cancer screening knowledge,explicit attitudes,and implicit associations

ObjectiveTo assess the effect of an information leaflet on knowledge, explicit attitudes, implicit associations, and attendance for breast cancer screening.MethodsDutch women (aged 49–75 years) were approached three months before their breast cancer screening invitation. After providing informed consent, participants were randomised to receiving the information leaflet (intervention condition) or not (control condition). Screening knowledge, explicit attitudes, and implicit associations were assessed through web-based questionnaires, at baseline and two weeks later. Actual screening attendance data were collected.ResultsIn total, 988 women completed both questionnaires. Participants in the leaflet condition scored higher on knowledge (9.9 versus 9.6, p < 0.001, scale 0−11), and more often had positive explicit attitudes (97 % versus 95 %, p = 0.03), than those in the control condition. This contrast was bigger among first-time invitees. Implicit associations were not correlated with explicit attitudes or attendance. Explicit attitudes were moderately correlated with attendance (r=.30, p < 0.001).ConclusionThe information leaflet led to more knowledge and more positive explicit attitudes. Implicit associations towards breast cancer screening were not correlated with attendance.Practice ImplicationsEncouragement to learn about the screening programme can increase levels of knowledge of invitees and therefore support their decision-making about participation. This might be especially relevant for first-time invitees.     

Implementing preconception expanded carrier screening in a universal health care system: A model-based cost-effectiveness analysis

PurposeThe limited evidence available on the cost-effectiveness (CE) of expanded carrier screening (ECS) prevents its widespread use in most countries, including Italy. Herein, we aimed to estimate the CE of 3 ECS panels (ie, American College of Medical Genetics and Genomics [ACMG] Tier 1 screening, “Focused Screening,” testing 15 severe, highly penetrant conditions, and ACMG Tier 3 screening) compared with no screening, the health care model currently adopted in Italy.MethodsThe reference population consisted of Italian couples seeking pregnancy with no increased personal/familial genetic risk. The CE model was developed from the perspective of the Italian universal health care system and was based on the following assumptions: 100% sensitivity of investigated screening strategies, 77% intervention rate of at-risk couples (ARCs), and no risk to conceive an affected child by risk-averse couples opting for medical interventions.ResultsThe incremental CE ratios generated by comparing each genetic screening panel with no screening were: −14,875 ± 1,208 €/life years gained (LYG) for ACMG1S, −106,863 ± 2,379 €/LYG for Focused Screening, and −47,277 ± 1,430 €/LYG for ACMG3S. ACMG1S and Focused Screening were dominated by ACMG3S. The parameter uncertainty did not significantly affect the outcome of the analyses.ConclusionFrom a universal health care system perspective, all the 3 ECS panels considered in the study would be more cost-effective than no screening.     

Entertainment education for prostate cancer screening: A randomized trial among primary care patients with low health literacy

ObjectiveTo evaluate an entertainment-based patient decision aid for prostate cancer screening among patients with low or high health literacy.MethodsMale primary care patients from two clinical sites, one characterized as serving patients with low health literacy (n = 149) and the second as serving patients with high health literacy (n = 301), were randomized to receive an entertainment-based decision aid for prostate cancer screening or an audiobooklet-control aid with the same learner content but without the entertainment features. Postintervention and 2-week follow-up assessments were conducted.ResultsPatients at the low-literacy site were more engaged with the entertainment-based aid than patients at the high-literacy site. Overall, knowledge improved for all patients. Among patients at the low-literacy site, the entertainment-based aid was associated with lower decisional conflict and greater self-advocacy (i.e., mastering and obtaining information about screening) when compared to patients given the audiobooklet. No differences between the aids were observed for patients at the high-literacy site.ConclusionEntertainment education may be an effective strategy for promoting informed decision making about prostate cancer screening among patients with lower health literacy.Practice implicationsAs barriers to implementing computer-based patient decision support programs decrease, alternative models for delivering these programs should be explored.     

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

PurposeThe aim of this study was to describe the methods, cases, and initial results of a pilot project using existing public health data collection programs (birth defect surveillance or newborn screening) to conduct long-term follow-up of children with metabolic disorders.MethodsCalifornia, Iowa, New York, and Utah expanded birth defect surveillance or newborn screening programs to collect long-term follow-up data on 19 metabolic disorders. Data elements to monitor health status and services delivered were identified, and record abstraction and data linkages were conducted. Children were followed up through to the age of 3 years.ResultsA total of 261 metabolic cases were diagnosed in 1,343,696 live births (19.4 cases/100,000; 95% confidence interval = 17.1–21.8). Four deaths were identified. Children with fatty acid oxidation disorders had a higher percentage of health service encounters compared with children with other disorders of at least one health service encounter (hospitalization, emergency room, metabolic clinic, genetic service provider, or social worker) except for hospitalizations; children with organic acid disorders had a higher percentage of at least one hospitalization during their third year of life than children with other disorders.ConclusionExisting public health data programs can be leveraged to conduct population-based newborn screening long-term follow-up. This approach is flexible according to state needs and resources. These data will enable the states in assessing health burden, assuring access to services, and supporting policy development.Genet Med16 6, 484–490.     

Health literacy screening instruments for eHealth applications: a systematic review

ObjectiveTo systematically review current health literacy (HL) instruments for use in consumer-facing and mobile health information technology screening and evaluation tools.DesignThe databases, PubMed, OVID, Google Scholar, Cochrane Library and Science Citation Index, were searched for health literacy assessment instruments using the terms “health”, “literacy”, “computer-based,” and “psychometrics”. All instruments identified by this method were critically appraised according to their reported psychometric properties and clinical feasibility.ResultsEleven different health literacy instruments were found. Screening questions, such as asking a patient about his/her need for assistance in navigating health information, were evaluated in seven different studies and are promising for use as a valid, reliable, and feasible computer-based approach to identify patients that struggle with low health literacy. However, there was a lack of consistency in the types of screening questions proposed. There is also a lack of information regarding the psychometric properties of computer-based health literacy instruments.LimitationsOnly English language health literacy assessment instruments were reviewed and analyzed.ConclusionsCurrent health literacy screening tools demonstrate varying benefits depending on the context of their use. In many cases, it seems that a single screening question may be a reliable, valid, and feasible means for establishing health literacy. A combination of screening questions that assess health literacy and technological literacy may enable tailoring eHealth applications to user needs. Further research should determine the best screening question(s) and the best synthesis of various instruments’ content and methodologies for computer-based health literacy screening and assessment.     

Accessibility of standardized information of a national colorectal cancer screening program for low health literate screening invitees: A mixed method study

ObjectiveTo explore the accessibility of standardized printed information materials of the national Dutch colorectal cancer screening program among low health literate screening invitees and to assess the effect of the information on their knowledge about colorectal cancer and the screening program.MethodsLinguistic tools were used to analyze the text and design characteristics. The accessibility, comprehensibility and relevance of the information materials were explored in interviews and in observations (n = 25). The effect of the information on knowledge was assessed in an online survey (n = 127).ResultsThe materials employed a simple text and design. However, respondents expressed problems with the amount of information, and the difference between screening and diagnostic follow-up. Knowledge significantly increased in 10 out of 16 items after reading the information but remained low for colorectal cancer risk, sensitivity of testing, and the voluntariness of colorectal cancer screening.ConclusionDespite intelligible linguistic and design characteristics, screening invitees with low health literacy had problems in accessing, comprehending and applying standard information materials on colorectal cancer screening, and lacked essential knowledge for informed decision-making about participation.Practice implicationsTo enable equal access to informed decision-making, information strategies need to be adjusted to the skills of low health literate screening invitees.     

The lesson of Monsieur Nouma: effects of a culturally sensitive communication tool to improve health-seeking behavior in rural Cameroon

ObjectiveTo test the effect of patient counseling using educational tools, on rates of return for follow-up in newly diagnosed hypertensive and/or diabetic patients in a rural African context.MethodsFree screening for hypertension and elevated blood glucose was offered in primary health care centers in central Cameroon during 9 campaigns of 3 days each. Individuals with untreated hypertension and/or diabetes were divided into 2 groups: a control group receiving counseling according to routine procedures, and an intervention group receiving counseling with different educational tools to explain the diagnosis and its implications to the patient.ResultsPrevalence of hypertension and/or diabetes in the screened population was 41%. At 3 months from screening, rates of return visits were higher in the intervention group than in the control group: 55/169 (32%) vs. 15/92 (16%), OR 2.4; 95%CI 1.3–4.7; p < 0.001.ConclusionScreening may identify untreated individuals efficiently. Rates of return visits after screening, although low in both groups, could be doubled by a short communication intervention.Practice implicationsThis study suggests that modest communication interventions, e.g., the application of educational tools, may bring important benefits and increase the effectiveness of public health measures to combat chronic diseases in settings of limited resources.     

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

PurposeSpinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary molecular assay. SMA newborn screening was implemented in New York State (NYS) on 1 October 2018.MethodsScreening was conducted using DNA extracted from dried blood spots with a multiplex real-time quantitative polymerase chain reaction (qPCR) assay targeting the recurrent SMN1 exon 7 gene deletion.ResultsDuring the first year, 225,093 infants were tested. Eight screened positive, were referred for follow-up, and confirmed to be homozygous for the deletion. Infants with two or three copies of the SMN2 gene, predicting more severe, earlier-onset SMA, were treated with antisense oligonucleotide and/or gene therapy. One infant with ≥4 copies SMN2 also received gene therapy.ConclusionNewborn screening permits presymptomatic SMA diagnosis, when treatment initiation is most beneficial. At 1 in 28,137 (95% confidence interval [CI]: 1 in 14,259 to 55,525), the NYS SMA incidence is 2.6- to 4.7-fold lower than expected. The low SMA incidence is likely attributable to imprecise and biased estimates, coupled with increased awareness, access to and uptake of carrier screening, genetic counseling, cascade testing, prenatal diagnosis, and advanced reproductive technologies.     

Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals

PurposeHealth care professionals are expected to take on an active role in the implementation of risk-based cancer prevention strategies. This study aimed to explore health care professionals’ (1) self-reported familiarity with the concept of polygenic risk score (PRS), (2) perceived level of knowledge regarding risk-stratified breast cancer (BC) screening, and (3) preferences for continuing professional development.MethodsA cross-sectional survey was conducted using a bilingual—English/French—online questionnaire disseminated by health care professional associations across Canada between November 2020 and May 2021.ResultsA total of 593 professionals completed more than 2 items and 453 responded to all questions. A total of 432 (94%) participants were female, 103 (22%) were physicians, and 323 (70%) were nurses. Participants reported to be unfamiliar with (20%), very unfamiliar (32%) with, or did not know (41%) the concept of PRS. Most participants reported not having enough knowledge about risk-stratified BC screening (61%) and that they would require more training (77%). Online courses and webinar conferences were the preferred continuing professional development modalities.ConclusionThe study indicates that health care professionals are currently not familiar with the concept of PRS or a risk-stratified approach for BC screening. Online information and training seem to be an essential knowledge transfer modality.     

U.S. newborn screening policy dilemmas for the twenty-first century

Newborn screening has traditionally referred to biochemical testing for inherited disorders, generally metabolic in origin, that are usually correctable by dietary or drug interventions. As new tests have been developed, state public health newborn screening systems have slowly evolved without the benefit of national policies. Thus, newborn screening program changes, when viewed nationally, have been uncoordinated. The net result has been unequally applied mandated screening and, consequently, unequal availability of related public health disease prevention services. Technological advances in laboratory testing over the past 10 years have resulted in limited program changes in some state newborn screening systems, and even greater program disparities. A recent Newborn Screening Task Force identified numerous issues of concern and proposed elements for a plan of action involving public health programs, healthcare providers, and consumers. This minireview details past policy history in newborn screening and identifies some of the current issues confronting programs as they seek to move ahead with the technologies and medical treatments for the twenty-first century.