RESUMEN
Prenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made. A retrospective chart review and pedigree analysis were performed for prenatal/preconception genetic counseling patients with a family history of cancer seen at two academic institutions between August 10, 2019, and December 1, 2019. In the 170 charts included, a recommendation for cancer genetic counseling was documented in 40% of all genetic counseling summaries and in 59.2% of summaries when NCCN genetic testing criteria for HBOC and/or Lynch syndrome was met. Using chi-squared and logistic regression analysis, these data support that individuals were significantly more likely to receive a recommendation when NCCN genetic testing criteria were met (OR = 5.01, p < .001) or when the family history contained two or more types of cancer (OR = 2.24, p = .02). Overall, this study identified the NCCN genetic testing criteria for HBOC and Lynch syndrome for which recommendations for cancer genetic counseling were commonly missed. This characterization suggests that continuing education for prenatal and preconception genetic counselors on updated NCCN guidelines may be helpful for improving rates of cancer genetic counseling referrals, uptake of genetic testing, and cancer screening recommendations.
Asunto(s)
Neoplasias de la Mama , Neoplasias Colorrectales Hereditarias sin Poliposis , Síndrome de Cáncer de Mama y Ovario Hereditario , Neoplasias de la Mama/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Femenino , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Síndrome de Cáncer de Mama y Ovario Hereditario/genética , Humanos , Estudios RetrospectivosRESUMEN
OBJECTIVE: Li-Fraumeni syndrome (LFS) confers an increased risk of multiple types of cancer in both children and adults. Clinical genetic testing for deleterious germline p53 gene mutations can identify most LFS-affected families. We evaluated factors associated with cancer-specific distress and perceived self-efficacy in coping with a positive genetic test result among persons at risk of having deleterious p53 mutations. METHODS: One hundred thirty-five persons from 15 LFS-affected families were invited to take part in a study that offered p53 genetic counseling and testing and to complete psychosocial measures. RESULTS: Participants (n=92) were more likely to be younger and female than nonparticipants (n=43). In multivariate analyses, greater cancer-specific distress was associated with having a lower quality of life, a higher perceived risk of having a p53 mutation, no personal history of cancer and a greater number of first degree relatives (FDRs) affected with cancer. Lower perceived self-efficacy in coping with a positive test result was associated with greater cancer worry, higher decisional conflict about p53 testing and having no personal history of cancer. CONCLUSIONS: Individual perceptions about cancer risk and p53 genetic testing, as well as personal experience with FDRs' cancer diagnoses and deaths, should be addressed during the counseling and testing process for LFS-affected families.