Pancreatic Cancer and the Family Connection: The Role of Advanced Practitioners in Screening and Educating Genetically At-Risk Individuals.

Pancreatic cancer is the third leading cause of cancer deaths in the United States. It has a 95% mortality rate within 5 years of the initial diagnosis. Pancreatic ductal adenocarcinoma is the most commonly diagnosed histotype. The average age at diagnosis is 70 years. Familial forms of pancreatic cancer have been associated with pathogenic variants in predisposing genes, including ATM, BRCA1, BRCA2, PALB2, CDKN2A, STK11, MLH1, and MSH2. Collecting information on the patient's family history may serve as a primary tool to screen an individual's risk for familial pancreatic cancer. More advanced screening options for individuals at risk include endoscopic ultrasonography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography. Due to pancreatic cancer's high mortality rate, routine screening of individuals at risk for developing familial pancreatic cancer may result in early diagnosis and improved survivability. This review aims to characterize the genetic risk factors associated with pancreatic cancer and recognize available screening options for at-risk individuals.

Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families.

BACKGROUND: Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic susceptibility is assessed via family history, genetic testing, or both. Individuals with two or more first-degree relatives or three or more relatives of any degree diagnosed with pancreatic cancer are considered at elevated risk. Following a diagnosis of familial pancreatic cancer, patients and families face uncertainty and anxiety about the future. Psychosocial effects of a pancreatic cancer diagnosis on families include fear, concerns about personal health, and how lifestyle may impact the risk of developing pancreatic cancer. CASE PRESENTATION: A 66-year-old male was diagnosed with pancreatic ductal adenocarcinoma stage IIB, T3, N1, M0. A genetic referral was made due to a history of multiple cases of pancreatic cancer within the patient's family. Genetic testing revealed the patient had a pathogenic variant in the ATM gene that is associated with an increased risk for pancreatic cancer development. The patient's one adult child was offered testing due to the autosomal dominant pattern of inheritance for this variant. The adult child was found to have the same pathogenic variant. She expressed fear for her future and her child's future health and longevity. Discussing a case study allows us to capture the multi-faceted relationship between the disease, the affected individuals, and their families. Examining the psychosocial stresses and concerns when there is a pancreatic cancer diagnosis in the family is essential to provide holistic care to patients and families. CONCLUSIONS: The psychosocial effects of FPC may be overwhelming for patients and families. Healthcare providers can offer education, support, and referrals to appropriate services to help families cope through stages of evaluation, diagnosis, and treatment of FPC.

Providers' Perspectives Related to Parents' Choice of Pediatric Provider of Record and Newborn Screening: A Qualitative Study.

The pediatric provider of record has a significant role in newborn screening and maintaining infant health after birth. Procedural errors and delays in communication can hinder the identification of infants with critical illnesses or follow up of unsatisfactory NBS samples. For this study, key stakeholders, including nurses, physicians, and midwives were interviewed to understand how the pediatric provider of record is selected by parents and examine factors affecting the newborn screening education and processes in the perinatal period. Provider responsibilities, timing of parent education, and social determinants of health played a role in parents' choices of the pediatric provider. Investment in future intervention programs is needed for reducing the number of infants without a designated pediatric provider of record. Research is needed to understand social complexities and healthcare systems which affect parents' choices of pediatric providers and newborn screening processes to optimize clinical outcomes for infants.

Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.

PURPOSE: The purpose of this article is to review literature for neurocognitive, neuropsychiatric, neurological complications associated with phenylalanine hydroxylase (PAH) deficiency. The goal is to familiarize nurse practitioners with treatment and monitoring guidelines for persons living with the disorder. CONCLUSIONS: Appropriate treatment can maximize neurocognitive and neuropsychiatric outcomes. PRACTICE IMPLICATIONS: Nurse practitioners can help persons with PAH deficiency through education and providing appropriate referrals and by supporting disease-specific treatment.

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.

BACKGROUND: Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and psychological functioning. Skilled clinical management is essential for preventing complications and providing comprehensive care to patients. In the last decade, the American College of Genetics and Genomics (ACMG) and a group of European experts developed separate guidelines to provide recommendations for the management and care of persons with PAH deficiency. The purpose of this paper was to compare and contrast these guidelines in order to understand the different approaches to PAH deficiency care. METHODS: We examined the procedures used to develop both guidelines, then evaluated key areas in PAH deficiency care which included screening, diagnostic approaches, dietary treatment (initiation and duration), ongoing phenylalanine level/ nutritional monitoring, neurocognitive screening, adherence issues in treatment, and special populations (women and maternal PKU, late or untreated PAH deficiency, and transitioning to adult services). We conducted a scoping review of four key topics in PAH deficiency care to explore recent research studies performed since the publication of the guidelines. RESULTS: The ACMG and European expert group identified limited numbers of high quality studies to use as evidence for their recommendations. The ACMG and European guidelines had many similarities in their respective approaches PAH deficiency care and recommendations for the diagnosis, treatment, and management for persons with PAH deficiency. There were also a number of differences between the guidelines regarding the upper range for phenylalanine levels in adolescents and adults, the types of instruments used and frequency of neuropsychiatric examinations, and monitoring of bone health. Treatment adherence can be associated with a number of challenges, such as aversions to medical foods and formulas, as well as factors related to educational, social, and psychosocial issues. From the scoping review, there were many new studies addressing issues in treatment and management including new research on sapropterin adherence and increased dietary protein tolerance and pegvaliase on the reduction in phenylalanine levels and hypersensitivity reactions. CONCLUSIONS: In the last decade, ACMG and European experts developed comprehensive guidelines for the clinical management of phenylalanine hydroxylase deficiency. The guidelines offered background and recommendations for clinical care of patients with PAH deficiency throughout the lifespan. New research evidence is available and updates to guidelines can keep pace with new developments. Evidence-based guidelines for diagnosis and treatment are important for providing expert care to patients.