what problems can occur in using race alone to define treatment for a genetic disease

Is there a link between race and disease?

In nearly all medical learning resources, Lyme disease is depicted predominantly on White skin and is often diagnosed much later when the disease has progressed to arthritic stages among Black patients. Other examples of connecting race to disease exist in medical textbooks.

Why should the race concept be removed from genetics research?

The race concept should be removed from genetics research for the following reasons: Genetic methods do not support the classification of humans into discrete races, [and] racial assumptions are not good biological guideposts. Races are not genetically homogenous and lack clear-cut genetic boundaries.

Why are genetic disorders so difficult to treat?

Many genetic disorders result from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems, and most cannot be cured.

Should we use a biological definition of race in genomics?

Opponents of the use of a biological definition of race believe that the immediate benefits of genomics are greatly overstated because it is impossible for race to provide the sensitivity and specificity needed to characterize DNA sequence variation for the purpose of guiding preventive or therapeutic medicine.

What is the problem with race based medicine?

However, Roberts traces race-based medicine to false assumptions about innate biological differences and to ugly justifications for slavery and medical exploitation. Today, race-based medicine diverts attention and resources from the social determinants that cause appalling racial gaps in health.

How does race affect diagnosis?

Racial stereotyping of disease and use of race in clinical algorithms and treatment guidelines may lead to errors in clinical diagnosis and management (overtreatment or undertreatment and other delays in clinical care), which may perpetuate and potentially worsen health disparities.

Does race play a role in genetics?

Racial categories are not reflective of the underlying biological reality. Race is a real concept that we use as social beings. As for whether race can be found in our genes, the answer is no. Biological ancestry, however (which is distinct from race), is real.

How does race affect access to health care?

NAM found that “racial and ethnic minorities receive lower-quality health care than white people—even when insurance status, income, age, and severity of conditions are comparable.” By “lower-quality health care,” NAM meant the concrete, inferior care that physicians give their black patients.

Why is race important in medicine?

Conversely, black physicians in the study believed that race is important for treatment decision-making, provides useful information for choosing medication, understanding disease risk, and is associated with social determinants (socioeconomic factors and cultural beliefs about illness) for the patients' health.

What race goes to therapy the most?

Outpatient mental health service use in the past year was highest for adults reporting two or more races (8.8 percent), white adults (7.8 percent), and American Indian or Alaska Native adults (7.7 percent), followed by black (4.7 percent), Hispanic (3.8 percent), and Asian (2.5 percent) adults.

Why is it important to separate the race and genetics?

Given that many genetic traits are found very similar amid many different populations, the rate of frequency which is taken to be enough for being part of a reference population is very important. This can also lead to mistakes, given that many populations may share the same patterns, if not exactly the same genes.

What is the relationship between race and genetics?

Some scientists argue that race is an adequate proxy of ancestry, whereas others claim that race belies how genetic variation is apportioned. Resolving this controversy depends on understanding the complicated relationship between race, ancestry and the demographic history of humans.

What is the significance of genetics and ethnicity as a risk factor for osteoporosis?

Results. Ethnicity and race, like sex, influence the epidemiology of fractures, with highest fracture rates in white women. Bone mineral density is higher in African Americans; however, these women are more likely to die after hip fracture, have longer hospital stays, and are less likely to be ambulatory at discharge.

How does discrimination affect access to healthcare?

The review identified that discrimination and healthcare education and attitudes can result in postponement of care, disparity of research, inadequate education and training opportunities, and uncomfortable or problematic interactions, which accumulate to negatively affect the overall health of this patient group.

What are racial and ethnic disparities in health care?

The Institute of Medicine defines disparities as “racial or ethnic differences in the quality of health care that are not due to access-related factors or clinical needs, preferences, and appropriateness of intervention.” Racial and ethnic minorities tend to receive poorer quality care compared with nonminorities, even ...

How can racial disparities be combated in healthcare?

Increase awareness of racial and ethnic disparities in health care among the general public. Strengthen patient-provider relationships in publicly funded health plans. Apply the same managed care protections to publicly funded HMO participants that apply to private HMO participants.

What happens if a doctor doesn't have a readily available genetic test?

If a doctor doesn't have a readily available genetic test to look at ancestry or to look at individual genotypes of that person, race will be their best proxy. But the language matters. We need to move away from racial terminology, particularly in the field of medical genetics. That should just be eliminated.

Why is genetics important?

Genetics researchers often discover certain snips and pieces of the human genome that are important for health and development , such as the genetic mutations that cause cystic fibrosis or sickle cell anemia. And scientists noticed that genetic variants are more common in some races, which makes it seem like race is important in genetics research.

What is Roberts' argument about subordination?

Roberts: There is a long history of justifying the subordination of different groups and social groupings based on myths about their biologic or genetic predispositions. It's not only that there's scientific evidence that humans aren't divided into discrete biological categories we'd call races.

Can you talk about race without racism?

You can't talk about race without also considering the history of racism. Tishkoff: But modern human geneticists, we're not trying to say they have a racist agenda. It's a positive thing to try and increase studies of genetic diversity that may differ across different ethnicities or ancestries. Roberts: Yes.

Do they need to say based on race?

But they don't need to say based on race. The language and terminology does matter. Roberts: Except if the research question has to do with investigating the effects of racism — race as a social category that does affect people's lives and health and future because of the impact of social inequality.

Does the NIH require race?

Roberts: The NIH guidelines require the use of race in recruiting research subjects. There's a history of advocating for that in order to increase the participation of minorities in clinical research. Then it gets confusing, because the researchers continue to use these categories in conducting the research.

Is race a good category?

That might be the wrong treatment for her. Roberts: Race isn't a good category to use to understand those differences or the commonalities. It in many cases leads researchers down the wrong path and leads to harmful results for patients.

What is genetics in medical field?

The field of medical genetics is practiced by doctors with subspecialty training in medical genetics and genetic counselors trained in counseling people about genetics. Medical genetics offers help for every stage of genetics in our lives. Prenatal testing and medical diagnosis assist in cases in which a trait seems to run in a family or resembles a known genetic trait. The medical geneticist can also end up playing Sherlock Holmes, sifting through clues to arrive at an answer to a medical mystery, or even providing information about a trait to someone who is unaffected but concerned because of family history or for other reasons. Although many problems in this field come to the doctor’s attention at birth or during childhood, medical genetics also plays an important role in diagnosis of traits in adults with later-onset conditions or whose correct diagnosis was missed during childhood.

Why are essential viral genes deleted?

Typically, essential viral genes are deleted to avoid viral replication. The gene of interest and associated regulatory elements are used to replace the deleted viral genes. The production of viral vectors must occur in a cell line engineered to express the missing viral genes.

What is gene therapy?

Gene therapy aims to introduce specific genes into cells to induce a desired effect; either introduce or replace a missing or malfunctioning gene, or lead to the over-expression of a particular protein. Collagen scaffolds have demonstrated potential as a 3D material suitable for the fabrication of Gene Activated Matrices (GAMs) for various tissue engineering applications [ 111, 112 ]. GAMs are 3D constructs designed to retain nucleic acids of interest, either presented as naked DNA/RNA within the scaffold, or complexed to a viral or nonviral delivery vector and incorporated into the scaffold. The construct then allows cells to infiltrate and migrate throughout the scaffold, take up the genetic material, become transfected, and ultimately express the desired transgene [ 113 ].

How to transfer a gene into a cell?

The simplest way to deliver a gene into the cells is to use naked DNA. Naked DNA, in the form of a plasmid containing the gene of interest, can be taken up and expressed by living mammalian cells. This method of gene transfer, however, is generally very inefficient, especially in vivo.

What is gene transfer?

Gene transfer can be used to study fundamental biological functions for a specific gene in vitro and in vivo. It can also be used for therapeutic purposes; in this circumstance, it is also called gene therapy. Gene therapy can involve the introduction of a gene into cells to restore normal function.

What is the cause of alkaptonuria?

This disease is caused by a mutated fumarylacetoacetate hydrolase (FAH) gene in the phenylalanine pathway ( Seashore & Wappner, 1996 ). Mutations in this pathway could cause at least four genetic disorders including alkaptonuria—a disease that attracted Garrod’s attention in 1902.

What are evolutionary biology and medical?

Evolutionary biologists and physicians treat the same fundamental evolutionary unit, the individual, differently: as a target of selection and as a target of intervention, respectively. These two biological disciplines with seemingly opposite value systems also complement each another, quite frequently. Numerous evolutionary genetic models have been incorporated into medical settings: genetic counseling, ancestry testing, consequences of consanguinity, diagnostics, forensics, and designing large clinical epidemiological studies for diseases such as type II diabetes, cardiovascular diseases, and asthma. Indeed, Childs and colleagues suggested that genetic counseling must be viewed as a part of preventive medicine ( Leonard, Chase, & Childs, 1972 ). Genetic diagnosis, Phenylketonuria (PKU) in the 1960s, has been expanded to include 29 genetic disorders ( Burke, Tarini, Press, & Evans, 2011) spanning protein (e.g., PKU), blood (e.g., sickle cell, hemophilia), respiratory (e.g., CF) disorders, and others ( Seashore & Wappner, 1996 ). Population screening of individuals of Ashkenazi descent has significantly reduced the burden of Tay–Sachs disease in this group, and these efforts are being expanded to related disorders ( Boustany, 2013 ). During 1984–2014, the number of genetic disorders for which there was no treatment has rapidly decreased from 31 conditions in 1983 to 17 in 2008, while the number of conditions that fully respond to treatment has increased from 8 to 20 ( Campeau, Scriver, & Mitchell, 2008 ), and these treatments accompany quantifiable improvements in health and longevity. Take for instance, CF, a devastating disease that affects lungs, common to children and young adults of European descent; the median predicted survival age for children with CF has increased from 31.3 to 41.1 from 2002 to 2012 due to medical interventions ( Stevens & Marshall, 2014 ).

What are the concerns about genetic information?

Some people have concerns about using genetic information in the treatment of disease. These concerns include: 1 Tailor-made medicines might be more expensive 2 Not everyone might have access to new treatments 3 Keeping genetic information private 4 Possible discrimination at work and from health insurance companies 5 Need for more information about this type of medicine

What diseases can run in families?

Rare diseases like hemophilia, cystic fibrosis, and sickle cell anemia also run in families.

Why do we need genetic testing?

Because these liver enzymes are less active in some people, they are less able to break down and get rid of some medicines. This can lead to serious side effects.

What is the goal of the Family History Initiative?

Surgeon General's Family History Initiative. This goal of this campaign is to have all American families learn more about their family health history.

Why should race be removed from genetics?

The race concept should be removed from genetics research for the following reasons: Genetic methods do not support the classification of humans into discrete races, [and] racial assumptions are not good biological guideposts. Races are not genetically homogenous and lack clear-cut genetic boundaries.

What is race genetics?

In the first decades of the 20th century, race was defined by discrete types, the belief that one member of a race was thought to share the same physical and social traits with other members of that race.

What is an example of a problemsome inheritance?

Advertisement. An example of this is the concern many had in the wake of Nicholas Wade’s book A Troublesome Inheritance, which made claims about the genetic basis of social differences between races. Wade’s book forced a large group of leading genetics to publicly refute the idea that genetics supported such ideas.

Why is race important in biology?

Race is used widely in human biological research and clinical practice to elucidate the relationship between our ancestry and our genes. In the laboratory, race can be used to investigate disease-causing genes within and between populations, and, more generally to classify groups in studies of human populations.

What is race in science?

Race, on the other hand, is a pattern-based concept that has led scientists and laypersons alike to draw conclusions about a hierarchical organization of humans, connecting an individual to a larger, preconceived, geographically circumscribed or socially constructed group.

Is sickle cell disease common in Africa?

The sickle-cell trait is believed to be protective against malaria. Thus, sickle-cell disease is at its highest frequency in West Africans and people of West African descent. But this trait is not common in other regions of Africa, where malaria is not as prevalent. Therefore, it is not an “African” disease.

Is race genetically homogeneous?

Races are not genetically homogenous and lack clear-cut genetic boundaries. And because of this, using race as a proxy to make clinical predictions is about probability.

What are the causes of genetic disorders?

Mutations in DNA can result in genetic disorders. Genetic disorders are conditions that occur as a result of changes to or mutations in DNA within the body’s cells. Most cells in the body contain long strands of DNA that provide the cell with instructions. Each DNA strand is tightly coiled around a protein called a histone.

Why are genetic disorders lifelong?

For this reason, treatments tend to focus on helping a person manage the symptoms, preventing complications, and improving quality of life. In some cases, there may be medications available to help slow the progression of a particular disease.

What happens when DNA mutations occur?

These DNA mutations result in the mitochondria failing to produce enough energy to sustain the body’s cells. Mitochondrial disorders can affect any organ or part of the body. The symptoms a person experiences will depend on the part of the body the disorder affects.

What is single inheritance?

Chromosomal abnormalities. Mitochondrial inheritance. Summary. A genetic disorder is a condition that occurs as a result of a mutation to DNA. There are several different genetic disorders. Most cells within the body contain the molecule DNA.

What is the genetic cause of muscle weakness?

Muscular dystrophies. Muscular dystrophies are a group of genetic conditions that cause muscle damage and weakness over time. They are due to mutations on the DMD gene. Muscular dystrophies are X-linked disorders, meaning that they affect a gene on the X chromosome. These conditions are more common in males.

How many copies of a gene are there in a human cell?

Each human cell normally contains 23 pairs of chromosomes, with one of each pair provided by each parent. Therefore, a person has two copies of every gene. A change or fault in the DNA can cause a genetic condition. Since genes pass from parent to child, these disorders may be heritable.

How many genes are there in the human genome?

The project established the sequence of the human genome and the function of different genes. The HGP estimated there to be around 20,000–25,000 genes in the human genome. The DNA inside these genes contain four chemical bases that act as units of information. They are:

What is the term for a group of genetic conditions that result from genetic changes that disrupt the production of specific enzymes

For a group of genetic conditions called inborn errors of metabolism , which result from genetic changes that disrupt the production of specific enzymes, treatments sometimes include dietary changes or replacement of the particular enzyme that is missing.

What are some examples of genetic changes?

One well-known example is familial breast cancer related to mutations in the BRCA1 and BRCA2 genes.

What is an example of an inborn error of metabolism?

An example of an inborn error of metabolism is phenylketonuria (PKU).

What is gene therapy?

This experimental technique involves changing a person's genes to prevent or treat a disease. Gene therapy, along with many other treatment and management approaches for genetic conditions, are under study in clinical trials.

Can genetic disorders be cured?

As a result, these disorders often affect many body systems, and most cannot be cured. However, approaches may be available to treat or manage some of the associated signs and symptoms.

Can sickle cell disease be treated with bone marrow?

Conditions that are characterized by defective blood cell formation, such as sickle cell disease, can sometimes be treated with a bone marrow transplant. Bone marrow transplantation can allow the formation ...

Can genetic disorders cause miscarriage?

Genetic disorders may cause such severe health problems that they are incompatible with life. In the most severe cases, these conditions may cause a miscarriage of an affected embryo or fetus. In other cases, affected infants may be stillborn or die shortly after birth.

Introduction

Background: Use of Race to Explain Health Differences

Race in Clinical Decision-Making and Treatment

• Provider Bias and Discrimination
  A significant and longstanding body of researchsuggests that provider and institutional bias and discrimination are drivers of racial disparities in health, contributing to racial differences in diagnosis, prognosis, and treatment decisions. Prior work suggests that providers historically w…
• Disease Stereotyping and Nomenclature
  Some medical training approaches and materials use imprecise labelsconflating race and ancestry, portray diseases through racial stereotypes, and rely on racial heuristics (i.e., mental shortcuts or associations) for teaching clinical diagnosis. Preclinical lectures and clinical vignett…

See more on kff.org

Implications