Genetic counseling and testing for Asian Americans: a systematic review

Young, Jennifer L.; Mak, Julie; Stanley, Talia; Bass, Michelle; Cho, Mildred K.; Tabor, Holly K.

doi:10.1038/s41436-021-01169-y

Cited by 13 publications

(16 citation statements)

References 64 publications

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“…Although little has been published about the GC needs of Asian Americans, lower levels of communication about risks and results have been noted. 21 A patient's CFH is increasingly important to contextualize GT results. The presence or absence of affected family members may contribute to the reclassification of variants of uncertain significance.…”

Section: Discussionmentioning

confidence: 99%

Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection

Vanderwall

Schwartz

Kipnis

et al. 2022

Journal of the National Comprehensive Cancer Network

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Background: Cancer family history is a vital part of cancer genetic counseling (GC) and genetic testing (GT), but increasing indications for germline cancer GT necessitate less labor-intensive models of collection. We evaluated the impact of GC on patient pedigrees generated by an electronic cancer family history questionnaire (eCFHQ). Methods: An Institutional Review Board–approved review of pedigrees collected through an eCFHQ was conducted. Paired pre-GC and post-GC pedigrees (n=1,113 each group) were analyzed independently by cancer genetic counselors for changes in patient-reported clinical history and to determine whether the pedigrees met NCCN GT criteria. Discrepancy in meeting NCCN GT criteria between pre-GC and post-GC pedigrees was the outcome variable of logistic regressions, with patient and family history characteristics as covariates. Results: Overall, 780 (70%) patients had cancer (affected), 869 (78%) were female, and the median age was 57 years (interquartile range, 45–66 years; range, 21–91 years). Of the 1,113 pairs of pre-GC and post-GC pedigrees analyzed, 85 (8%) were blank, 933 (84%) were not discrepant, and 95 (9%) were discrepant in meeting any NCCN GT criteria. Of the discrepant pedigrees, n=79 (83%) became eligible for testing by at least one of the NCCN GT criteria after GC. Patients with discrepant pedigrees were more likely to report no or unknown history of GT (odds ratio [OR], 4.54; 95% CI, 1.66–18.70; P=.01, and OR, 18.47; 95% CI, 5.04–88.73; P<.0001, respectively) and belonged to racially and/or ethnically underrepresented groups (OR, 1.91; 95% CI, 1.08–3.25; P=.02). Conclusions: For most patients (84%), a standalone eCFHQ was sufficient to determine whether NCCN GT criteria were met. More research is needed on the performance of the eCFHQ in diverse patient populations.

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Section: Discussionmentioning

confidence: 99%

Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection

Vanderwall

Schwartz

Kipnis

et al. 2022

Journal of the National Comprehensive Cancer Network

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“…33,34 Among Asian Americans, language barriers, interpretation issues, genetic literacy challenges, and cultural expectations of directiveness may also play a role. 35 GCs’ main roles include helping patients and providers navigate these barriers and serve as a valuable resource to PCPs.…”

Section: Discussionmentioning

confidence: 99%

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

Truong

Kenneson

Rosén

et al. 2021

J Prim Care Community Health

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Introduction: Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics. Methods: A 34-item online survey was distributed to PCPs in the United States (US). PCP demographics, practice characteristics, and referral patterns, motivators, and barriers were analyzed. Six hypothetical clinical scenarios included in the survey also were presented to a cohort of clinical geneticists. We calculated PCPs’ rates of ordering genetic tests and of referral to genetics services in the past year. Rates and responses to clinical scenarios were compared based on respondents’ personal and practice characteristics. Results: A total of 95 PCPs and 25 clinical geneticists participated. Among the PCPs, 79% reported referring and 50% reported ordering genetic testing in the last year. PCPs with genetic counselors (GCs) in their clinic referred at significantly higher rates than those without ( P = .008). White PCPs referred at significantly higher rates compared to Black or African American PCPs ( P = .009). The most commonly reported motivators for referring patients to genetic services were preference for specialist coordination, lack of knowledge, and family’s desire for risk information. The most commonly reported barriers were patient refusal, provider concerns about costs to patients, and uncertainty of when a genetic referral is appropriate. In response to clinical scenarios, clinical geneticists were in agreement about the need for genetic testing or referral for 2 of the scenarios. For these 2 scenarios, only 48% and 71% of PCPs indicated that they would offer genetic testing or referral, respectively. Conclusions: Responses to clinical scenarios suggest that it is not clear to PCPs when referrals or testing are needed. Collaboration with GCs is one approach to reducing barriers to and improving PCPs’ utilization of genetic services. Clear guidelines from clinical geneticists may help facilitate appropriate use of genetics services by PCPs. Additional research is needed to further describe barriers that PCPs face in genetic testing/referrals.

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“…Achieving health equity in precision medicine remains a critical challenge because of the continued underrepresentation of racially and ethnically minoritized populations that have experienced historical trauma and structural inequities in research 1 and barriers to receiving genetic services. 2 …”

Section: Introductionmentioning

confidence: 99%

“…Foundational to many of these barriers is the frequent monolithic treatment of “Asians.” AAs are often aggregated into a single, non-specific “Asian” category, particularly in genetic research, that often masks meaningful health differences between Asian ethnic groups and their understanding and views towards genetic services. 2 , 14 In turn, aggregation precludes interpreting differences between ethnic populations’ perspectives toward genetic services that may be relevant to geographical or location-specific communities. As the demographic characteristics of local ethnic communities continue to change, such generalizability to race may simply be inadequate to inform location-based healthcare systems.…”

Section: Introductionmentioning

confidence: 99%

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Assessing Vietnamese American patient perspectives on population genetic testing in primary care: A community-engaged approach

Lemke

Choi²,

Dang³

et al. 2022

Human Genetics and Genomics Advances

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Genetic counseling and testing for Asian Americans: a systematic review

Cited by 13 publications

References 64 publications

Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection

Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

Assessing Vietnamese American patient perspectives on population genetic testing in primary care: A community-engaged approach

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