Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family.
Since the completion of the Human Genome Project (HGP) in 2003, the understanding of genetics and its influence on disease, particularly cancer, has increased dramatically. The initial focus after the completion of HGP was on identifying single-gene disorders, such as many hereditary cancer syndromes (e.g., BRCA1, BRCA2, HNPCC). As research continues, the major impact that genetics and genomics have across the healthcare continuum is only beginning to become clear.
PURPOSE Telegenetics services can expand access to guideline-recommended cancer genetic testing. However, access is often not distributed equitably to all races and ethnicities. We evaluated the impact of an on-site nurse-led cancer genetics service in a diverse Veterans Affairs Medical Center (VAMC) oncology clinic on likelihood of germline testing (GT) completion. METHODS We conducted an observational retrospective cohort study of patients who were referred for cancer genetics services at the Philadelphia VAMC between October 1, 2020, and February 28, 2022. We evaluated the association between genetics service (on-site v telegenetics) and likelihood of GT completion in a subcohort of new consults, excluding patients with prior consults and those referred for known history of germline mutations. RESULTS A total of 238 Veterans, including 108 (45%) seen on site, were identified for cancer genetics services during the study period, with the majority referred for a personal (65%) or family (26%) history of cancer. In the subcohort of new consults, 121 Veterans (54% self-identified race/ethnicity [SIRE]-Black), including 60 (50%) seen on site, were included in the analysis of germline genetic testing completion. In a univariate analysis, patients who were seen by the on-site genetics service had 3.2-fold higher likelihood of completing GT (relative risk, 3.22; 95% CI, 1.89 to 5.48) compared with the telegenetics service. In multivariable regression analysis, the on-site genetics service was associated with higher likelihood of GT completion, but this association was only statistically significant in SIRE-Black compared with SIRE-White Veterans (adjusted RR, 4.78; 95% CI, 1.53 to 14.96; P < .001; P-interaction of race × genetics service = .016). CONCLUSION An on-site nurse-led cancer genetics service embedded in a VAMC Oncology practice was associated with higher likelihood of germline genetic testing completion than a telegenetics service among self-identified Black Veterans.
71 Background: In oncology practice, there are increasing numbers of patients for whom genetic testing is recommended by the National Cancer Care Network (NCCN), including all metastatic and high-risk localized prostate cancer patients. However, there is a critical shortage of genetics services providers. Acuity for these consults can be high, particularly in the context of a treatment related decision. We hypothesized that nurses, particularly advanced practice nurses (APNs), can provide a workforce within VA that can address genetic testing and genetic care needs of prostate cancer patients. Methods: We initiated a cancer genetics service staffed with an advanced practice nurse (APN) geneticist and evaluated the success of the program at a large urban, academic-affiliated Veteran’s Affairs Medical Center (VAMC). Results: In the one year prior to the initiation of the APN geneticist-run program (10/1/2019-9/30/2020), 61 unaffected patients with a family history of cancer and 85 patients with cancer (36 with prostate cancer) were referred to a VA centralized telegenetics service. An average of seven cancer patients (average three with prostate cancer) were referred to VA telegenetics per month. Genetic testing was completed in eleven (18%) of unaffected patients and 21 (25%) of cancer patients. Five (13%) of tested patients were found to have a pathogenic or likely pathogenic mutation or variant of uncertain significance (VUS). In the eight months after initiation of the APN geneticist-run consult service (10/1/2020 - 5/30/2021), 39 unaffected patients with a family history of cancer and 90 patients with cancer (38 with prostate cancer) were referred. An average of 11 cancer patients (average five with prostate cancer) per month were referred. This represents a 57% increase in all cancer patient and a 67% increase in prostate cancer patient referrals. For those patients referred to the APN geneticist-run consult service, genetic testing was completed in three (7%) of unaffected patients and 30 (33%) of cancer patients (including 15 prostate cancer patients). The genetic testing rate therefore improved from 1.7 oncology patients per month to 3.9 oncology patients per month, an 130% increase in genetic testing. For prostate cancer patients, the genetic testing rate improved from 0.8 to 1.9 patients tested per month, representing a 137% increase. Comparison of genetic testing outcomes at one year will be included in the final presentation. Conclusions: Inclusion of an APN geneticist-run consult service embedded in oncology clinics will likely improve access to genetics services and genetic testing rates in cancer patients.
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