Utilization of Genomics to Advance the Care of Chronic Disease in Diverse Populations: Case Study: Hepatitis C

Friday, 24 July 2015: 2:10 PM

Cathy M. St. Pierre, PhD, APRN, FNP, FAANP
Urgent Care/Research, ENRM VA Hospital, Bedford, MA
Julie Lynch, PhD, RN
Center for Health Organization, Implementation Research, ENRM VA Hospital, CHOIR Center of Excellence, Bedford, MA

Purpose: The purpose of this presentation is to describe how the use of genomics in culturally diverse populations, can positively impact on the treatment of chronic diseases such as hepatitis C.  The results of this study are based on a national sample of over 2,000 veteran patients diagnosed with hepatitis C who seek care from a Veterans Health Administration (VHA) facility in the USA.

Background:  Advancements in genetics can inform health care practices.  It is currently estimated that approximately 150 million people worldwide are living with chronic hepatitis C (HCV).  Hepatitis C is a devastating disease which contributes to significant morbidity and mortality and is predicted to increase over the next 5 years.  80% of currently infected patients, will advance to develop cirrhosis, liver cancer and/or liver failure, if left untreated. The VHA currently treats the largest percentage of hepatitis C infected patients in the USA. In the past, treatment consisted of a two-drug therapy, which was only successful in the treatment of up to 48% of patients with HCV. This two drug therapy is not without significant side effects which can also lead to treatment failure. The recent use of genetic testing can help to better identify patients who are most likely to respond favorably to treatment vs. those who are not. 

Methods : A retrospective, descriptive study was undertaken to review the results of genetic testing on patients with hepatitis C in the VHA health care system and identification of the genotype of the hepatitis C  virus. Laboratory results were linked to individual patient characteristics for delineation of trends and outcomes for treatment.  IRB approval was provided to conduct this study within the VHA. 

Results :  A retrospective analysis of a sample of over 2025 patients with hepatitis C was undertaken.  Inclusion criteria for this study included 1) chronic hepatitis C diagnosis and genetic tests results were available. There are currently 6 different hepatitis C virus genotypes identified. 60% of our sample were identified as genotype1, the most resistant genotype to treatment. Individual characteristics of our sample were also identified by utilization of the single nucleotide polypeptide (SNP) test.  SNP testing identifies which of three subtypes a patient belongs to: CC, CT or TT.  The SNP subtype will help to identify those who are most amendable to treatment options. Those identified as genotype 1, subtype CC will have the best opportunity for successful treatment of hepatitis C.  Our sample were identified as : White, African American and Asian.  Analysis of data showed that the ethnic group most at risk for failure to treatment were African American.  92% of the African Americans with genotype 1 were found to have either the CT or TT SNP as compared to only 52% in those of European descent and 13% of those of Asian descent respectively. 

Conclusions: Utilization of genomics can influence treatment of patients with chronic hepatitis C and improve quality of life.   Customized effective therapies for patients can help eliminate the the long term complications of untreated chronic HCV.  In fact, successful treatment of hepatitis C can lead to cure.   Genetic testing can also identify those who are least likely to benefit from standard drug therapy thereby eliminating the  morbidity of hepatitis C patients who suffer through treatment to experience treatment failure.  Limitations of this study include results based on a predominately male population.   Although the majority of patients infected with hepatitis C  in the past has been predominately male, the number of infected females is increasing and currently accounts for approximately 5400 cases of Acute hepatitis C in 2012.