Impact on person and family

The diagnosis of a genetic disorder and test results have wide-ranging implications for patients and their families.19 Genetic information can have a strong emotional impact, such as feelings of blame, guilt, sadness, alienation, and futility. It is important that patients from every race realize and understand the cause of a genetic disorder and their inability to cause or change genetic risk. 


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The cost of genetic testing, diagnosis, and disorder can be a burden to people from races with high prevalence of genetic disorders. This burden can lead to greater stress potentially affecting both physical and mental well-being of patients as well as their family members.20 The lack of information on genomics and limited financing options are barriers that affect the use of genetic services and resources among patients in both high income and low-to-middle-income populations. Furthermore, due to the nature of genomics, cultural norms play a major role in determining beliefs, attitudes, and behaviors of patients toward the science of genetic testing and its implications.20

Current diagnostic criteria and diagnostic aids

Diagnostic testing, such as genetic testing, identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic disorder and help determine an individual’s probability of developing or passing on a genetic disorder to his or her offspring.21 Early testing, such as newborn screening, is critical in chromosomal genetic testing, as this may produce improved health outcomes.22 Newborn screening (NBS) is the practice of testing every newborn for certain harmful or potentially fatal conditions that typically are not otherwise apparent at birth.23 Universal NBS has become a well-established, state-based, public health system involving education, screening, diagnostic follow-up, treatment and management, and system monitoring and evaluation.23 It is important to routinely screen for genetic conditions, especially disorders prevalent in certain races. NBS requires a capillary specimen collected between 24 and 48 hours of age, to ensure the results will come back by the time the newborn begins to exhibit symptoms. A second sample is then collected between 1 and 2 weeks of age for the newborn, as some disorders are not detectable until this time frame, making an additional test needed.24

Each year, more than 98% of approximately 4 million newborns in the US are screened.25 Through early identification, newborn screening offers an opportunity for treatment and significant reductions in morbidity and mortality.23 Of the 4 million infants screened, approximately 12,500 are diagnosed with 1 of the 29 core conditions of the uniform screening panel.23 The goal of newborn screening is the pre-symptomatic detection of infants with congenital conditions so treatment may be initiated as early as possible to prevent, or ameliorate, the long-term consequences of the condition.26 Most states in the US screen for SCD, TSD, CF, and thalassemia in newborns.26 It is important for clinicians to be aware of the conditions that newborns are screened for in the state in which they practice.

Potential innovations for healthcare practice

Discoveries about the role of race in genetics can decrease disease incidence, associated morbidity, and present a distinctive opportunity to impact healthcare costs; however, these discoveries will be limited by the lack of knowledgeable professionals who can educate different races and communities on the risks, benefits, or value of such genetic tests.27 The role of race in genomics has produced an unprecedented number of assets to propel innovation. Initial accessibility of genomics-based applications in economic medicine validate a substantial potential to address worldwide challenges and is one of the most discernible areas in which genomics innovation is likely to add to a more individualized, predictive, and preventive medical practice. It is reasonable to foresee that genomics applications will lead to a shift in the ability to ease substantial health, economic, and social encumbrances of people of different races.28 The pace at which racial genomic data are being produced poses important technologic challenges for data storage, processing capacity, quality control management, and the interpretation of vast amounts of sequence data.29 In addition, the cost of genomics technologies is still a major constraint inhibiting genomics innovations from more expeditious advancement.29

It is reasonable to predict that novel high-throughput sequencing and analytical technologies will emerge, and given the size of the markets integrating these technologies into their processes, costs will continue to decrease to a level at which global access becomes possible.29 To successfully benefit from genomics innovations regarding race, it is imperative to address numerous hurdles related to generating large quantities of scientific evidence, developing lower-cost sequencing technologies, effective bioinformatics, as well as sensitive ethical, legal, and social aspects associated with the development and use of genomics innovations.28

Some clinicians debate that taking race into consideration is clinically useful and can provide insight into a patients’ genetic heritage and behavioral habits. Others argue that such practices are not scientifically defensible and may increase disparities by promoting stereotyping, and minority patients may receive “racialized care,” rather than care designed to be specifically and culturally appropriate for them as individuals. Despite this debate, the prevalence of race conveys that racial identity is pertinent to genetic variation and that certain racial groups are to be considered “at-risk” for some diseases or genetic conditions.

Related Articles

EBP management and treatment of genetic disorders varies based on the genetic condition and an individual’s health needs. Most EBP treatment and management strategies for genetic disorders do not alter the underlying genetic mutation; however, a few conditions have been treated with gene therapy.4 Experimental techniques involving changing a person’s genes to prevent or treat a disease along with other treatment and management approaches for genetic disorders are being studied in clinical trials.4 EBP and guidelines for disease conditions are constantly changing based on research and clinical trials. It is important for clinicians to be current with the guideline in treating and managing genetic conditions.