Overview: Genetics/Genomics
2 Overview: Genetics/Genomics An important part of the genomic risk assessment is having a basic knowledge and understanding of genetics, genomics, and patterns of inheritance. It is well known…
Patterns of Inheritance
3 Patterns of Inheritance Patterns of inheritance refer to the way in which a trait can be passed from one generation to the next. Understanding patterns of inheritance is…
Step 1.b: Review Collected Data—Family History and the Use and Interpretation of the Pedigree
5 Step 1.b: Review Collected Data—Family History and the Use and Interpretation of the Pedigree The family history is a continuation of Step 1 of data collection for the…
Step 2: Identification of Risk—Assessment of Red Flags
6 Step 2: Identification of Risk—Assessment of Red Flags After completing the data collection process and reviewing the personal and family history, including pertinent tests and findings from the…
Newborns, Infants, and Children
10 Newborns, Infants, and Children Ann H. Maradiegue Genomic risk assessment of the pediatric population includes the recognition of genetic disorders including physical and dysmorphology features that may be…
Step 1.a: Review Collected Data—Personal, Ancillary, Laboratory, and Physical Examination
4 Step 1.a: Review Collected Data—Personal, Ancillary, Laboratory, and Physical Examination Step 1 of the genetic/genomic risk assessment process requires data collection through history-taking, physical examination, and review and…
Step 3: Selecting Risk Probability
7 Step 3: Selecting Risk Probability Once the data are assessed for elements of risk, or red flags, further evaluation should be conducted based on the identified risks to…
Risk Assessment in Preconception and Maternal Care
9 Risk Assessment in Preconception and Maternal Care Jill Fonda Allen, Lisa M. Freese, Quannetta T. Edwards, and Charles J. Macri Genetics is the primary cause or plays an…
Step 4: Risk Communication and Risk Management
8 Step 4: Risk Communication and Risk Management After all of the data are collected and evaluated, the next step in risk assessment is communicating the findings for the…
Cancer and RISK Assessment
11 Cancer and RISK Assessment It is estimated that approximately 5% to 10% of cancers are inherited as a result of germline mutations. Inherited cancer syndromes result in an…
