Chatbots &amp; artificial intelligence to scale genetic information delivery

Nazareth, Shivani; Nussbaum, Robert L.; Siglen, Elen; Wicklund, Catherine

doi:10.1002/jgc4.1359

Cited by 27 publications

(22 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…54 Chatbots are software programs designed to simulate human conversation using natural language processing and may provide an even more powerful level of assistance. 55 Chatbots can assist a patient with personal and family history collection, assess the imported information in the context of accepted guidelines for hereditary cancer risk, offer individualized and interactive patient counseling, and facilitate the process of genetic testing. 55 Morgan et al 56 evaluated a web-enabled digital tool for population genetic screening of BRCA1/2 Ashkenazi Jewish founder pathogenic variants.…”

Section: Applying Innovative Strategies To Overcome Barriers To Genet...mentioning

confidence: 99%

“…55 Chatbots can assist a patient with personal and family history collection, assess the imported information in the context of accepted guidelines for hereditary cancer risk, offer individualized and interactive patient counseling, and facilitate the process of genetic testing. 55 Morgan et al 56 evaluated a web-enabled digital tool for population genetic screening of BRCA1/2 Ashkenazi Jewish founder pathogenic variants. The study demonstrated that webbased pretest genetic counseling resulted in participant knowledge and genetic testing completion rates comparable to traditional, face-to-face genetic counseling studies.…”

Section: Applying Innovative Strategies To Overcome Barriers To Genet...mentioning

confidence: 99%

See 1 more Smart Citation

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Frey

Finch

Kulkarni

et al. 2022

American Society of Clinical Oncology Educational Book

View full text Add to dashboard Cite

Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.

show abstract

Section: Applying Innovative Strategies To Overcome Barriers To Genet...mentioning

confidence: 99%

Section: Applying Innovative Strategies To Overcome Barriers To Genet...mentioning

confidence: 99%

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Frey

Finch

Kulkarni

et al. 2022

American Society of Clinical Oncology Educational Book

View full text Add to dashboard Cite

show abstract

“…AI applications have been developed to supplement professional skills and practice across many specialties of medicine, including pre‐test counseling for preconception ECS. Data suggest that pre‐test education chatbots for preconception ECS are generally well‐received and can augment the education efforts of providers (Nazareth et al., 2020). Rothwell et al (2021) also demonstrated the benefits of using graphic narratives for ECS pre‐test counseling in pregnant and post‐delivery individuals with most participants expressing high enjoyment/satisfaction.…”

Section: Discussionmentioning

confidence: 99%

Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences

Ramdaney

Lichten

Propst

et al. 2022

Journal of Genetic Counseling

View full text Add to dashboard Cite

The aim of carrier screening is to identify prospective parents at risk of having a pregnancy affected with an autosomal recessive or X‐linked disorder. Though minimal guideline‐based screening is available, expanded carrier screening (ECS) is quickly becoming a feasible option for the general population due to its growing availability and affordability. However, the impact of ECS on clients and providers remains relatively unexplored. We performed a systematic evidence review to identify publications describing client‐, provider‐, and test‐related outcomes. We searched several biomedical databases for articles published between January 1, 2003 and May 31, 2021. Studies were eligible for inclusion if they described genetic counseling and/or genetic testing for carrier screening (minimal guideline‐based or ECS) in a prenatal or preconception setting in the United States. Title and abstract screening were performed using the Raayan web application or customized Google Forms. Full‐text review and data extraction of included articles were performed using custom Google Forms. Two researchers performed a multistep selection process independently for validation purposes. Of 5413 unique articles screened, 36 studies were included with several studies contributing to multiple outcomes. Twenty described outcomes relating to patients/clients, 10 described provider‐based outcomes, and 16 described test‐based outcomes. Findings suggest that client and provider perceptions of ECS and minimal guideline‐based carrier screening are multifaceted. Though clients have expressed desire for ECS, clinical uptake and impact on reproductive decision‐making varies. Additionally, though genetic counselors seem to be comfortable with ECS, most other reproductive care providers seem to prefer minimal guideline or ancestry‐based screening due to perceived barriers, such as time needed for ECS results disclosure and follow‐up, as well as the desire to have panels set by professional societies/recommendations. There are limitations within the gathered literature, leading to potential uncertainty in the generalizability of our review. We outline several recommendations for future studies, including the need to examine variant interpretation and use of next‐generation sequencing.

show abstract

“…Increasing the number and size of training programs for genetic counselors and medical geneticists is critical 43,44 . Additionally, the development of innovative service delivery models that leverage digital tools (such as chatbots and health information technology) may help increase access to genetic services, maximizing the efficiency of genetics professionals 45‐50 . Telegenetics has also become a popular option to reach more patients while simultaneously decreasing wait time and increasing patient volume 51‐54 …”

Section: Discussionmentioning

confidence: 99%

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

et al. 2021

View full text Add to dashboard Cite

The interpretation of genetic testing results is subject to error. This observational study illustrates examples of pitfalls and challenges in interpretation of genetic testing results as reported by genetics professionals. We surveyed genetics professionals to describe interpretation challenges, the types of variants that were involved, and the reported clinical impact of misconception of a test result. Case studies were then collected from a select group to further explore potential causes of misunderstanding. A total of 83% of survey respondents were aware of at least one instance of genetic test misinterpretation. Both professionals with and without formal training in genetics were challenged by test reports, and variants of unknown significance were most frequently involved. Case submissions revealed that interpretation pitfalls extend beyond variant classification analyses. Inferred challenges in case submissions include lack of genetic counseling, unclear wording of reports, and suboptimal communication among providers. Respondents and case submitters noted that incorrect interpretation can trigger unnecessary follow‐up tests and improperly alter clinical management. Further research is needed to validate and quantify large‐scale data regarding challenges of genetic results interpretation.

show abstract

Chatbots & artificial intelligence to scale genetic information delivery

Cited by 27 publications

References 11 publications

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

Contact Info

Product

Resources

About