Models were created using TreeAge and data collected from a systematic literature reviews. Specific keywords were related to patient perceptions of genetic screening procedures for family planning and primary care physician attitudes toward such procedures. With both stakeholders’ perspectives accounted for, a framework incorporating decision-making analysis was developed. Using data from literature and facilities providing screening services, we demonstrated that the utility of this framework for two distinct conditions. Each condition analyzed has well-established genetic components but differ by disease onset, means of diagnosis, and medical management of disease.
Our shared decision-making model is interactive. The user is presented with key outcomes based on their risk assessment to assist in this complex decision-making. With cystic fibrosis and Alzheimer's disease as theoretical case studies, this framework’s applicability is broad. Our model concludes that physicians are encouraged to include their patients in this decision-making process. Our framework provided an opportunity for physician and providers to assess the related risks and benefits to patients during this process during prenatal testing and the value of genomic sequencing information for early onset and long-onset diseases.
This study provides a novel framework for determining whether prenatal or neonatal screening, or gene or genomic sequencing may be appropriate for a given patient for family planning purposes.