A model for the return and referral of all clinically significant secondary findings of genomic sequencing.

Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range of health benefits to patients. Resource and capacity constraints pose a challenge to their clinical management; therefore, clinical workflows are needed to optimise the health benefits of SFs. In this paper, we describe a model we created for the return and referral of all clinically significant SFs, beyond medically actionable results, from GS. As part of a randomised controlled trial evaluating the outcomes and costs of disclosing all clinically significant SFs from GS, we consulted genetics and primary care experts to determine a feasible workflow to manage SFs. Consensus was sought to determine appropriate clinical recommendations for each category of SF and which clinician specialist would provide follow-up care. We developed a communication and referral plan for each category of SFs. This involved referrals to specialised clinics, such as an Adult Genetics clinic, for highly penetrant medically actionable findings. Common and non-urgent SFs, such as pharmacogenomics and carrier status results for non-family planning participants, were directed back to the family physician (FP). SF results and recommendations were communicated directly to participants to respect autonomy and to their FPs to support follow-up of SFs. We describe a model for the return and referral of all clinically significant SFs to facilitate the utility of GS and promote the health benefits of SFs. This may serve as a model for others returning GS results transitioning participants from research to clinical settings.

Great expectations: patients' preferences for clinically significant results from genomic sequencing.

We aimed to describe patient preferences for a broad range of secondary findings (SF) from genomic sequencing (GS) and factors driving preferences. We assessed preference data within a trial of the Genomics ADvISER, (SF decision aid) among adult cancer patients. Participants could choose from five categories of SF: (1) medically actionable; (2) polygenic risks; (3) rare diseases; (4) early-onset neurological diseases; and (5) carrier status. We analyzed preferences using descriptive statistics and drivers of preferences using multivariable logistic regression models. The 133 participants were predominantly European (74%) or East Asian or mixed ancestry (13%), female (90%), and aged > 50 years old (60%). The majority chose to receive SF. 97% (129/133) chose actionable findings with 36% (48/133) choosing all 5 categories. Despite the lack of medical actionability, participants were interested in receiving SF of polygenic risks (74%), carrier status (75%), rare diseases (59%), and early-onset neurologic diseases (53%). Older participants were more likely to be interested in receiving results for early-onset neurological diseases, while those exhibiting lower decisional conflict were more likely to select all categories. Our results highlight a disconnect between cancer patient preferences and professional guidelines on SF, such as ACMG's recommendations to only return medically actionable secondary findings. In addition to clinical evidence, future guidelines should incorporate patient preferences.

Patient-Guided Tours: A Patient-Centered Methodology to Understand Patient Experiences of Health Care.

PURPOSE: The experience-based design approach using patient-guided tours (PGT) has been suggested as an effective way to understand the patient experience and may better allow the patient to recall thoughts and feelings. The objective of this study was to assess how patients with a disability perceive the effectiveness of PGTs for understanding their experiences of receiving primary health care. METHODS: A qualitative study design was used. Participants were chosen by convenience sampling. The patient was asked to walk through the clinic as they would on a "typical visit" while describing their experiences. They were questioned about their experience and perception of PGTs. The tour was audiotaped and transcribed. The investigators took field notes and completed thematic content analysis. RESULTS: Eighteen patients participated. The main findings were: (1) Touchpoints and physical cues were effective in eliciting experiences that participants stated they would not have recalled using other research methods, (2) The ability for participants to show the investigator aspects of the space that impacted their experience enabled the investigator to "see through their eyes" resulting in ease of communication and a sense of empowerment, (3) PGTs encouraged individuals to be active participants which fostered comfort and collaboration, and (4) PGTs may exclude those that are severely disabled. CONCLUSION: This method was perceived as effective at eliciting experiences of patients with a disability. It has benefits over more traditional research methods by allowing the participant to refresh their memory at "touchpoints" and enabling them to be active participants.

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.

Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically significant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in three phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative refinement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary (cancer) and secondary findings, with in-depth details of each finding generated from exome sequencing. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically significant SFs to patients and providers, facilitating clinical management of GS results.

Use of eConsult to enhance genetics service delivery in primary care: A multimethod study.

PURPOSE: Electronic consultation (eConsult) is a freely-available secure online platform connecting primary care providers (PCPs) to geneticists. Our purpose was to determine whether eConsult is effective in improving genetics service delivery in primary care. METHODS: PCP questionnaires regarding eConsult's utility, geneticists' tracking form assessments of eConsult type and appropriateness, and geneticists' interviews on implementing eConsult were carried out. RESULTS: In 2 regions of Ontario, Canada, from January 2019 to June 2020, there were 305 genetics eConsults. For 169 (55%), PCPs indicated receiving good advice for a new course of action; for 110 (36%), referral was now avoided; and for 261 (86%), eConsult was perceived valuable for patient management. Of the 131 geneticist-completed tracking forms, cancer questions were most common (68, 52%). For 63 (48%), geneticists disagreed/strongly disagreed PCPs should know the answer to the referral question. From the interview data, it was observed that geneticists described eConsult positively and suggested how it might improve access and efficiencies if integrated into genetic service delivery. Dealing with eConsults virtually could reduce waitlists, and suggesting appropriate investigations for PCPs could improve efficiencies. CONCLUSION: eConsult offers a potential solution for receiving timely genetics advice and avoiding unnecessary patient referrals, however, greater effect on access and wait times will need systematic integration into PCP and geneticist practice.

Psychological Distress and Behavioural Changes in Pregnant and Postpartum Individuals During the COVID-19 Pandemic.

OBJECTIVES: To determine the psychological and behavioural effects of the COVID-19 pandemic on a Canadian cohort of individuals during pregnancy and the postpartum period. METHODS: In 2020, individuals between 20 weeks gestation and 3 months postpartum receiving maternity care from an urban Canadian clinic were invited to complete a questionnaire. The purpose-built questionnaire used validated scales including the Medical Outcomes Study Social Support Survey (MOS), Depression, Anxiety, and Stress Scale (DASS-21), Edinburgh Postnatal Depression Scale (EPDS), and questions from a SARS study. RESULTS: One hundred nine people completed the questionnaire (response rate, 55%) of whom 57% (n = 62) were postpartum. Most respondents (107, 98%) were married and had completed post-secondary education (104, 95%). Despite these protective factors, moderate to severe levels of depression (22%), anxiety (19%) and stress (27%), were recorded using the DASS-21, and 25% of participants (26) had depression (score ≥11) using the EPDS. Despite high social support in all MOS domains (median scores 84-100), a majority of participants reported loneliness (69, 67%) and were nearly or totally housebound (65, 64%). About half of participants worried about themselves (50, 46.3%) or their baby (59, 54%) contracting COVID-19, while the majority postponed (80, 74.1%) and cancelled (79, 73.2%) prenatal appointments. Being homebound or feeling lonely / lacking support were significant risk factors for psychological distress (P = 0.02) whereas exercise and strong social support were protective (P < 0.05). CONCLUSION: Pregnant and postpartum individuals experienced moderate to severe depression, anxiety, and stress during the COVID-19 pandemic. Exercise and strong social support were protective. Health care provider enquiry of home circumstances and activity may identify individuals needing enhanced supports.

Effect of genetics clinical decision support tools on health-care providers' decision making: a mixed-methods systematic review.

PURPOSE: Patient care involving genetics is challenging for nongenetics health-care providers. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or management recommendations. This systematic review synthesized evidence on whether using CDS tools resulted in appropriate changes in genetics-related patient management made by nongenetics health-care providers. METHODS: A comprehensive search in MEDLINE, Embase, and CINAHL yielded 2,239 unique articles. Two independent reviewers screened abstracts and full texts for quantitative, qualitative, and mixed-methods articles on management changes by nongenetics clinicians using a CDS tool as part of patient care. Effect sizes were calculated for quantitative studies and all articles were analyzed together using narrative synthesis. Twenty articles were included. RESULTS: In 12/16 quantitative studies, CDS tools slightly increased appropriate changes in management, but study design appeared to affect the statistical significance of the effect. The qualitative data in the four remaining studies reaffirmed that CDS tools facilitated management decisions but raised questions about their effect on patient outcomes. CONCLUSION: Our review assessed clinical utility of CDS tools, finding that they slightly increase appropriate management changes by nongenetics providers. Future studies on CDS tools should explicitly evaluate decision making and patient outcomes.

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.

PURPOSE: Alternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment traditional counseling and reduce burden on professionals; however, their role in delivery of genetic counseling is not established. This study explored the role of the Genomics ADvISER, a digital decision aid, in delivery of genomic counseling. METHODS: We performed secondary analysis of 52 pretest genetic counseling sessions that were conducted over the course of a randomized controlled trial evaluating the effectiveness of the Genomics ADvISER. As part of the trial, participants were randomized to receive standard counseling or use the tool and then speak with a counselor. A qualitative interpretive description approach using thematic analysis and constant comparison was used for analysis. RESULTS: In the delivery of genomic counseling, the Genomics ADvISER contributed to enhancing counseling by (1) promoting informed dialogue, (2) facilitating preference-sensitive deliberation, and (3) deepening personalization of decisions, all of which represent fundamental principles of patient-centered care: providing clear high-quality information, respecting patients' values, preferences, and expressed needs, and providing emotional support. CONCLUSION: This study demonstrates that our digital tool contributed to enhancing patient-centered care in the delivery of genomic counseling.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

Pregnant during the COVID-19 pandemic: an exploration of patients' lived experiences.

BACKGROUND: Infectious outbreaks are known to cause fear and panic. Exploration of pregnant individuals' psychosocial condition using a qualitative lens during an infectious outbreak is limited. In this study we explore pregnant individuals' lived experiences as well as their psychological and behavioural responses during COVID-19 with the goal of providing useful strategies from the patient's perspective to enable health care providers to help pregnant patients navigate this and future pandemics. METHODS: Pregnant individuals between 20-weeks gestation and 3 months postpartum who received maternity care from an urban academic interprofessional teaching unit in Toronto, Canada were invited to participate. Semi-structured 60 min interviews were audio-recorded, transcribed and analyzed using descriptive thematic analysis. Interview questions probed psychological responses to the pandemic, behavioural and lifestyle changes, strategies to mitigate distress while pregnant during COVID-19 and advice for other patients and the healthcare team. RESULTS: There were 12 participants, mean age 35 years (range 30-43 years), all 1 to 6 months postpartum. Six main themes emerged: 1) Childbearing-related challenges to everyday life; 2) Increased worry, uncertainty and fear; 3) Pervasive sense of loss; 4) Challenges accessing care; 5) Strategies for coping with pandemic stress; 6) Reflections and advice to other pregnant people and health care professionals. Pregnant individuals described lack of social support due to COVID-19 pandemic restrictions and a profound sense of loss of what they thought their pregnancy and postpartum period should have been. Advice to healthcare providers included providing mental health support, clear and up to date communication as well as more postpartum and breastfeeding support. CONCLUSIONS: These participants described experiencing psychosocial distress during their pregnancies and postpartum. In a stressful situation such as a global pandemic, health care providers need to play a pivotal role to ensure pregnant individuals feel supported and receive consistent care throughout the pregnancy and postpartum period. The health care provider should ensure that mental health concerns are addressed and provide postpartum and breastfeeding support. Without addressing this need for support, parental mental health, relationships, parent-infant bonding, and infant development may be negatively impacted.

Experiences of patients with a disability in receiving primary health care: Using experience-based design for quality improvement.

OBJECTIVE: To use patient-guided tours to gain insight into the experiences of patients with disabilities receiving primary care, with the goal of suggesting improvements. DESIGN: A qualitative experience-based design study, using patient-guided tours. SETTING: Multidisciplinary academic urban primary care practice. PARTICIPANTS: Patients with disabilities identified by their health care providers. METHODS: Patients walked through the clinic as they would on a "typical visit" describing their feelings and experiences. The investigator used a semistructured interview guide to prompt the patient. The tour was audiorecorded and transcribed. Thematic content analysis was used. MAIN FINDINGS: Participants included 18 patients with various disabilities (physical disability, sensory disability, chronic illness, mental illness, learning disability, developmental disability). Strong positive relationships, particularly with the team and administrative staff, profoundly affected perceived access and experience of care. Multidirectional, clear, and respectful communication independently improved patients' experiences dramatically. Participants said that many access, coordination, and physical barriers were eased by team relationships and communication. Physical space and building issues were troublesome for those with physical and mental disabilities alike. Each participant's disability itself played a role in their experience but was not described as prominently as their relationship, communication, and spatial challenges. Participants described the patient-guided tour method as valuable to elicit experiences and feelings. CONCLUSION: Some health care teams are unaware of how relationships and communication affect every aspect of health care for people with disabilities. Highlighting these findings with providers and organizations might prompt a more patient-centred model of care. Our experience-based design consisting of patient-guided tours was effective in assessing how those with disabilities experienced care.

Primary care providers' role in newborn screening result notification for cystic fibrosis.

OBJECTIVE: To explore primary care providers' (PCPs') role in result notification for newborn screening (NBS) for cystic fibrosis (CF), given that expanded NBS has increased the number of positive screening test results, drawing attention to the role of PCPs in supporting families. DESIGN: Cross-sectional survey and qualitative interviews. SETTING: Ontario. PARTICIPANTS: Primary care providers (FPs, pediatricians, and midwives) who received a positive CF NBS result for an infant in their practice in the 6 months before the study. MAIN OUTCOME MEASURES: Whether the PCP notified the family of the initial positive CF screening result. RESULTS: Data from 321 PCP surveys (response rate of 51%) are reported, including 208 FPs, 68 pediatricians, and 45 midwives. Interviews were completed with 34 PCPs. Most (65%) surveyed PCPs reported notifying the infant's family of the initial positive screening result; 81% agreed that they have an important role to play in NBS; and 88% said it was important for PCPs, rather than the NBS centre, to notify families of initial positive results. With support and information from NBS centres, 68% would be extremely or very confident in doing so; this dropped to 54% when reflecting on their recent reporting experience. More than half (58%) of all PCPs said written point-of-care information from the NBS centre was the most helpful format. Adjusted for relevant factors, written educational information was associated with a lower rate of notifying families than written plus verbal information (risk ratio of 0.79; 95% CI 0.69 to 0.92). In the interviews, PCPs emphasized the challenge of balancing required content knowledge with the desire for the news to come from a familiar provider. CONCLUSION: Most PCPs notify families of NBS results and value this role. These data are relevant as NBS programs and other genomic services expand and consider ways of keeping PCPs confident and actively involved.

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.

OBJECTIVE: To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results. DESIGN: Mailed questionnaire. SETTING: Ontario. PARTICIPANTS: Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months. MAIN OUTCOME MEASURE: Primary care providers' preferred roles in providing well-baby care for infants with positive CF screening results. RESULTS: Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers' health. Only 25% knew how to order parents' CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16). CONCLUSION: Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.

PURPOSE: To evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with genetic counseling alone. METHODS: A randomized controlled trial (RCT) was conducted to evaluate whether the Genomics ADvISER is superior to genetic counseling when hypothetically selecting SF. Participants were randomized to use the DA followed by discussion with a genetic counselor, or to genetic counseling alone. Surveys were administered at baseline and post-intervention. Primary outcome was decisional conflict. Secondary outcomes were knowledge, preparation for, and satisfaction with decision-making, anxiety, and length of counseling session. RESULTS: Participants (n = 133) were predominantly White/European (74%), female (90%), and ≥50 years old (60%). Decisional conflict (mean difference 0.05; P = 0.60), preparation for decision-making (0.17; P = 0.95), satisfaction with decision (-2.18; P = 0.06), anxiety (0.72; P = 0.56), and knowledge of sequencing limitations (0.14; P = 0.70) did not significantly differ between groups. However, intervention participants had significantly higher knowledge of SF (0.39; P < 0.001) and sequencing benefits (0.97; P = 0.01), and significantly shorter counseling time (24.40 minutes less; P < 0.001) CONCLUSIONS: The Genomics ADvISER did not decrease decisional conflict but reduced counseling time and improved knowledge. This decision aid could serve as an educational tool, reducing in-clinic time and potentially health care costs.

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis.

OBJECTIVE: The cost effectiveness of noninvasive prenatal testing (NIPT) has been established for high-risk pregnancies but remains unclear for pregnancies at other risk levels. The aim was to assess the cost effectiveness of NIPT in average-risk pregnancies from the perspective of a provincial public payer in Canada. METHODS: A model was developed to compare traditional prenatal screening (TPS), NIPT as a second-tier test (performed only after a positive TPS result), and NIPT as a first-tier test (performed instead of TPS) for trisomies 21, 18, and 13; sex chromosome aneuploidies; and microdeletions in a hypothetical annual population cohort of average-risk pregnancies (142 000 to 148,000) in Ontario, Canada. A probabilistic analysis was conducted with 5000 repetitions. RESULTS: Compared with TPS, NIPT as a second-tier test detected more affected fetuses with trisomies 21, 18, and 13 (188 vs. 158), substantially reduced the number of diagnostic tests (i.e., chorionic villus sampling and amniocentesis) performed (660 vs. 3107), and reduced the cost of prenatal screening ($26.7 million vs. $27.6 million) annually. Compared with second-tier NIPT, first-tier NIPT detected an additional 80 cases of trisomies 21, 18, and 13 at an additional cost of $33 million. The incremental cost per additional affected fetus detected was $412 411. Extending first-tier NIPT to include testing for sex chromosome aneuploidies and 22q11.2 deletion would increase the total screening cost. CONCLUSIONS: NIPT as a second-tier test is cost-saving compared with TPS alone. Compared with second-tier NIPT, first-tier NIPT detects more cases of chromosomal anomalies but at a substantially higher cost.

A framework to build capacity for a reflex-testing program for Lynch syndrome.

PURPOSE: Lynch syndrome (LS) is the most common inherited cause of colorectal cancer. Although testing all colorectal tumors for LS is recommended, the uptake of reflex-testing programs within health systems has been limited. This multipronged study describes the design of a provincial program for reflex testing in Ontario, Canada. METHODS: We recruited key stakeholders to participate in qualitative interviews to explore the barriers and facilitators to the implementation of a reflex-testing program. Data were analyzed in an iterative manner, key themes identified, and a framework for a proposed program developed. RESULTS: Twenty-six key informants participated in our interviews, and several themes were identified. These included providing education for stakeholders (patients, primary care providers, surgeons); challenges with sustaining various resources (laboratory costs, increased workload for pathologists); ensuring consistency of reporting test results; and developing a plan to measure program success. Using these themes, a framework for the reflex-testing program was developed. At a subsequent stakeholder meeting, the framework was refined, and recommendations were identified. CONCLUSIONS: This study identifies factors to ensure the effective implementation of a population-level program for reflex LS testing. The final product is a prototype that can be utilized in other jurisdictions, taking into account local environmental considerations.

Fetal Exome Sequencing on the Horizon.

Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified. This commentary discusses what it is, its indications, its benefits, and its limitations.

Bridging the gap in genetics: a progressive model for primary to specialist care.

BACKGROUND: The rapid expansion of genetic knowledge, and the implications for healthcare has resulted in an increased role for Primary Care Providers (PCPs) to incorporate genetics into their daily practice. The objective of this study was to explore the self-identified needs, including educational needs, of both urban and rural Primary Care Providers (PCPs) in order to provide genetic care to their patients. METHODS: Using a qualitative grounded theory approach, ten key informant interviews, and one urban and two rural PCP focus groups (FGs) (n = 19) were conducted. All PCPs practiced in Southeastern Ontario. Data was analyzed using a constant comparative method and thematic design. The data reported here represent a subset of a larger study. RESULTS: Participants reported that PCPs have a responsibility to ensure patients receive genetic care. However, specific roles and responsibilities for that care were poorly defined. PCPs identified a need for further education and resources to enable them to provide care for individuals with genetic conditions. Based on the findings, a progressive stepped model that bridges primary and specialty genetic care was developed; the model ranged from PCPs identifying patients with genetic conditions that they could manage alone, to patients who they could manage with informal or electronic consultation to those who clearly required specialist referral. CONCLUSIONS: PCPs identified a need to integrate genetics into primary care practice but they perceived barriers including a lack of knowledge and confidence, access to timely formal and informal consultation and clearly defined roles for themselves and specialists. To address gaps in PCP confidence in providing genetic care, interventions that are directed at accessible just-in-time support and consultation have the potential to empower PCPs to manage patients' genetic conditions. Specific attention to content, timing, and accessibility of educational interventions is critical to address the needs of both urban and rural PCPs. A progressive framework for bridging primary to specialty care through a 'stepped' model for providing continuing medical education, and genetic care can was developed and can be used to guide future design and delivery of educational interventions and resources.

Universal tumor screening for Lynch syndrome: health-care providers' perspectives.

PURPOSE: Population-based reflex testing of colorectal tumors can identify individuals with Lynch syndrome (LS), but there is debate regarding the type of patient discretion such a program warrants. We examined health-care providers' views and experiences to inform the design of a reflex-testing program and their perspectives regarding an opt-out option. METHODS: We interviewed providers managing LS or colorectal cancer patients, including surgeons, genetic counselors, oncologists, primary-care physicians, and gastroenterologists. Qualitative data were analyzed thematically using constant comparison techniques. RESULTS: Providers supported a reflex-testing program because of the current lack of coordinated immunohistochemistry (IHC) testing and underascertainment of LS patients as well as the opportunity to standardize the increasing use of genomic tests in practice. Most supported an opt-out after reflex testing because they felt that IHC is akin to other pathology tests, which are not optional. Some favored an opt-out before testing because of concern for patients experiencing distress, insurance discrimination, or a diagnostic odyssey that may be inconclusive. CONCLUSION: Providers support a reflex-testing program to improve the identification and management of suspected LS patients. However, how to support meaningful information provision to enable an opt-out without jeopardizing testing uptake and the anticipated public health benefits remains a policy challenge.Genet Med advance online publication 06 October 2016.

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.

PURPOSE: Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF. METHODS: We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2. RESULTS: The response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants' carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways. CONCLUSION: Although mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.Genet Med 19 4, 403-411.