Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This article explores a set of CSER results disclosure cases to expand the evidence base on experiences returning genomic results. Case details were collected using a structured set of questions. We identified common themes in the case set, and assessed challenges and strategies in achieving six relevant results disclosure objectives. CSER-affiliated patient/community stakeholder impressions of the findings were solicited via video conference calls. Seventeen cases across six CSER projects were included. Case themes sorted into four categories: (1) factors influencing participant understanding, (2) participant emotional response, (3) disease burden, and (4) logistical challenges. Challenges meeting results disclosure objectives included a lack of dialogue, health literacy level, unexpected findings, and complex concepts. Strategies were consistent with traditional genetic counseling practice, but also highlighted approaches being evaluated in CSER projects. Patient/community stakeholders supported the identified themes and provided additional suggestions to improve patient understanding and engagement. These experiences add valuable insights into adapting genomic results disclosure practices to best serve all patient populations.

Evaluation of TellYourContacts.org, a Patient-Initiated Digital COVID-19 Contact Notification Tool (Preprint)

BACKGROUND Contact notification is a method used to control the spread of infectious disease by alerting close contacts of possible exposure. Digital contact notification allows for notification via SMS and email. OBJECTIVE This study evaluated TellYourContacts.org, a COVID-19 digital contact notification website that can be used either confidentially or anonymously. METHODS We performed a descriptive analysis of the feasibility and use of TellYourContacts.org from May 18th to August 17th, 2020. A testing lab and results disclosure service encouraged patients who tested positive for COVID-19 to use TellYourContacts.org through notifications. We collected website data through Google Analytics and used Microsoft Excel to record the data of website users, types of messages sent, and location of the senders. RESULTS Over the course of three months, 9,130 users accessed the website and sent a total of 1,952 messages. Of those messages, users sent 1,815 (93%) SMS messages and 137 (7%) emails. Users sent messages from 40 states, with the majority of United States senders from California (49%). CONCLUSIONS Our findings suggest that TellYourContacts.org is a promising and accessible patient-led digital contact notification method for those who test positive for COVID-19 in the United States. TellYourContacts.org allows for an additional means to assist in contact notification, thereby increasing the overall number of contacts notified of COVID-19 exposure.

Communication of genetic testing results and cascade testing among Mexican carriers of cancer-associated variants and their families.

e13541 Background: Most hereditary cancer syndromes exhibit autosomal dominant inheritance. Therefore, communicating results to family members and performing cascade testing is crucial in order to identify individuals at risk and offer them appropriate risk-reducing strategies. The process of communicating medical information within families is highly variable and might be affected by several factors (including culture, education, understanding of results, and family conflicts) which remain understudied among individuals living in developing countries. We sought to investigate communication of results and cascade testing reach within the families of Mexican individuals carrying cancer-associated pathogenic variants (PVs). Methods: Individuals seen at a single center in Mexico City carrying a cancer-associated PV and enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) were included. Carriers received genetic counseling at the time of results disclosure, a family letter was provided to facilitate the communication of results, and cascade testing was offered. After >3 months from results disclosure, participants were surveyed regarding genetic testing results communication patterns, performance of cascade testing, and surveillance behaviors. Data was analyzed using descriptive statistics. Results: Among 354 probands, 53 (15%) were identified as carriers of a cancer-associated PV. Mean age was 48.3 (range 21-82) years. Cascade testing (≥1 family member) was initiated in 74% of families (n = 39), with a median of 3 (range 0-16) family members tested per proband. 53 carriers responded the survey (29 probands and 24 relatives). 98% (n = 43) had shared results with their family, and 53% (24/45) had shared them with their treating physicians. Most respondents were receiving active surveillance (n = 36, 80%); with 43% (n = 15) reporting having at least one barrier for complying with surveillance (financial: n = 8; distance to the hospital: n = 3). Around half of the carriers perceived their cancer risk to be of ≥50%. Conclusions: Our results show that both the communication of genetic testing results and the proportion of cascade testing within Mexican families are high. Family involvement in health care decision-making is common in Mexico, as in other Latin American countries, which might lead to improved family communication. However, strategies to improve communication with providers are needed in order to tackle barriers and improve surveillance of individuals carrying cancer associated PVs.