what are several implications for care and treatment of genomics

What are the implications of genomics science for healthcare and nursing?

In addition, the implications of genomics for the development and targeting of nonpharmacologic treatment strategies is largely unexplored. Conclusions: Further research is needed to expand knowledge beyond genomic risk for the presence of disease to knowledge about the genomic risk for symptoms, symptom burden, and tailored symptom management interventions.

What is the future promise of genomics?

Genomics plays a role in 9 of the 10 leading causes of death, 5 including: Heart disease Cancer Stroke Diabetes Alzheimer’s disease Genetic tests for the leading causes of death and disability are becoming available. Family health history features prominently in a number of evidence-based recommendations.

What is the impact of Genomic Medicine on cancer treatment?

Implications for nursing practice The nursing profession has a key role in assuring that genomic healthcare does not enhance racial and ethnic health inequities. This will require utilization of new genomic knowledge and caring for each patient as an individual in a culturally and clinically appropriate manner.

What are some relevant implementation projects for Genomics in healthcare?

Mar 15, 2018 · A new paradigm for disease diagnosis and treatment is emerging that will bring about changes in health care delivery in and out of the hospital setting. Over the past several decades, genomic medicine has been one of the fastest growing fields in …

What are some implications for health care of genome research and discoveries?

The interventions could take the form of medical surveillance, life style modifications, changes in diet, or drug therapy. For example, those at highest risk for colon cancer could undergo frequent colonoscopies for screening, which would prevent many premature deaths.Mar 29, 2012

What are some implications of the integration of genomics in healthcare?

Advances in both technologies enable an ever-increasing capacity for accurate diagnosis of existing disease, and development of effective and targeted treatment strategies. They also offer opportunities to assess predisposition to disease, potentially prompting more focused clinical monitoring and lifestyle changes.Jul 7, 2014

What are some implications of the Human Genome Project?

The HGP benefited biology and medicine by creating a sequence of the human genome; sequencing model organisms; developing high-throughput sequencing technologies; and examining the ethical and social issues implicit in such technologies.Sep 13, 2013

What is the concerns regarding genomics?

11 Issues of confidentiality, stigmatization, and misuse of genetic information are high on the list of concerns, particularly the potential for creating a genetic underclass that may be denied medical insurance as a result of genetic testing and screening.

Why should nurses and leadership care about advances in genomics in healthcare?

Policies that promote inclusion of genetics and genomics as an essential component of nursing education and delivery of health care, regardless of setting, are essential to accelerate the work of translation and application of genetic and genomic advances for promoting and protecting the health of the public.

How do genomics affect the role of the advanced practice nurse?

The use of genetic and genomic information is increasingly important in providing effective healthcare. Genetics focuses on the individual genes in the genome, generally addressing those conditions resulting from single gene errors, conditions nurses encounter rather infrequently.Jan 1, 2008

How can the human genome project be used in medicine?

Targeted therapies – Cancer A huge breakthrough in medicine has been the ability to sequence the DNA in cancer cells. The sequence can be compared to the sequence found by the Human Genome Project. This allows scientists to work out which genes are mutated and this gives them ideas for developing medicines.

What are the ethical legal and social implications of genome research?

These include: Privacy and fairness in the use and interpretation of genetic information. Clinical integration of new genetic technologies. Issues surrounding genetics research.Oct 1, 2012

How have the results of the human genome project impacted the treatment of genetic and congenital diseases?

Results: A number of disease genes have already been identified, leading to improved diagnosis and novel approaches to therapy. A new type of mutation, trinucleotide repeat expansion, has been found to be responsible for at least seven diseases with an unusual inheritance pattern.

What is genomics in health care?

Genomics in health examines the molecular mechanisms and the interplay of this molecular information and health interventions and environmental factors in disease. Human genomics is not the only part of genomics relevant to human health.Nov 12, 2020

What is genomics healthcare?

Genomic medicine is the study of our genes (DNA) and their interaction with our health. Genomics investigates how a person's biological information can be used to improve their clinical care and health outcomes (eg through effective diagnosis and personalised treatment.

How is genomics impacting society?

The diagnostic power of genomics is helping us in many ways when it comes to human health - from understanding the genetic basis of inherited genetic diseases through to even being able to gene edit somatic cells to protect against certain conditions.Mar 16, 2020

What are the issues in genomics?

Emerging Issues in Genomics 1 It is becoming increasingly difficult for independent review panels to evaluate quickly and thoroughly the evidence of the proposed health benefits and harms of the fast-growing number of genetic tests and family health history tools. 2 As the number of recommended genetic tests increases, valid and reliable national data are needed to establish baseline measures and track progress toward targets. Many tests are recommended for use in small subpopulations, making it difficult for most national health information systems, such as the National Health Interview Survey (NHIS), to monitor progress. Traditional administrative data sources in the health care system offer new potential to track specific genetic tests in billing records with the implementation of current procedural terminology (CPT) codes for molecular genetic tests beginning in 2012.

What are the applications of genomics?

Traditionally, public health applications of genomics have focused on rare diseases, such as those identified through newborn screening programs. Much of the future promise of genomics rests on its application to common diseases.

What are the new genomic topics and objectives for 2020?

The new Genomics topic area and objectives for 2020 reflect the increasing scientific evidence supporting the health benefits of using genetic tests and family health history to guide clinical and public health interventions . The objectives are based on 2 recommendations from independent panels on genetic testing based on thorough, systematic reviews of scientific evidence.

What is the Precision Medicine Initiative?

The U.S. Precision Medicine Initiative, launched in 2015, aims to promote health and treat disease by taking into account individual differences in people’s genes, environments, and lifestyles. 11 As genomics discoveries lead to new opportunities to improve health through the use of genetic tests and family health history tools, 2 important challenges need to be addressed.

Why do we need genetic testing?

Genetic tests for the leading causes of death and disability are becoming available. Family health history features prominently in a number of evidence-based recommendations. The U.S. Food and Drug Administration requires genetic testing to guide the use of many drugs.

How many genetic tests are there?

Tens of thousands of genetic tests are currently available, including some available directly to consumers. 9 Genetic tests have the potential to improve health in a variety of ways by informing health care through: Risk prediction. Prevention. Diagnosis.

Why are genetic tests not valid?

On the other hand, genetic tests that are not valid or useful have the potential to cause harm by prompting inappropriate changes in medical care based on incomplete or incorrect information. Family health history is an important risk factor for common diseases, independent from traditional risk factors.

Why is it important to compare genome sequences?

Comparing genome sequences from different species will be a great aid in revealing the genes, since the stretches of DNA that code for protein and the regions in genes that regulate their expression tend to be conserved among species.

What is pharmacogenomics approach?

The pharmacogenomics approach for predicting drug responsiveness will be standard practice for many drugs. New gene-based "designer drugs" will be coming on the market for diabetes, hypertension, mental illness, and a long list of other conditions. The diagnosis and treatment of cancer will likely be transformed.

What was the twentieth century?

Genetics in the Twentieth Century. The twentieth century saw enormous, even revolutionary, development in the field of genetics. In the spring of 1900, three different scientists brought Mendel's laws of inheritance to a wide audience. This marked the founding of genetics as a scientific discipline.

How many base pairs are there in the human genome?

The HGP struck the research community as an audacious undertaking; when the project began, DNA sequencing technology was not yet in a position to tackle the three billion base pairs of the human genome.

When did recombinant DNA start?

Recombinant DNA technology burst onto the scene in the 1970s, allowing the preparation of pure samples of short DNA segments. Sequencing DNA was still brutally difficult, until Sanger and Gilbert independently developed methods to sequence DNA in the late 1970s.

Who led the genome sequencing project?

To take on a project of such magnitude, the leaders of the project, headed by James Watson, decided to develop a detailed set of plans and to define intermediate milestones. Before attempting wholesale sequencing, they decided to develop maps of the genome.

What was the controversy in the 1980s?

In the late 1980s much controversy raged about such proposals; many scientists expressed concern that such a project was technologically impractical and, if launched, likely to consume vast amounts of funding that could go to other kinds of scientific research instead.

How does genomics impact medicine?

Precision genomic medicine will have a transformative impact on personal health and wellbeing, health economics and national productivity. In recent years, there has been an extraordinary leap in knowledge of the human genome and its role in health and disease.

How does genomics affect the economy?

Genomic medicine will transform health care and the national economy, especially in a population whose average lifespan is increasing. Personal economic benefits accrue from genomically informed restoration of health and consequent earning capacity. Higher precision in risk identification reduces health costs for an individual and the health care system by avoiding adverse reactions and unnecessary treatments.

What is the role of genomics in cancer?

Cancer treatment is also set to benefit from genomic information to predict how an individual will respond to drugs (known as pharmacogenomics) and inform prescription of the appropriate drug or dosage.

What is genetic testing in Australia?

With the exception of a few pharmacogenomic tests and cancer treatments, clinical genetic testing in Australia is at present limited to diagnosing hereditary and rare monogenic diseases.

What is data mining in EHR?

Data mining of a national EHR database will allow evidence-based forward planning of health care needs and allocation of resources by government health departments. As a national resource, it is vital that such a database is access-controlled and that appropriate consent processes are in place.

What is genomic analysis?

Genomic analysis provides opportunities for new approaches to therapeutic development, health care delivery and population health management. The medical and scientific communities around the world are just starting to seize the transformative opportunities that personalised, precision genomic medicine offers.

Is genomic sequencing more common?

With genome sequencing becoming more accessible, it is becoming more common for individuals to seek personal genomic information through direct-to-consumer genetic testing services . 17 However, these tests are not accredited for clinical diagnosis, and individuals will gain most benefit when their genomic sequence becomes integrated into their health care such that clinicians and other health professionals can provide considered advice and the portal to treatment options.

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.

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 are the inborn errors of metabolism?

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. Limiting certain substances in the diet can help prevent the buildup ...

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.

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.

What do nurses need to know about genomics?

Nurses will need to be able to effectively translate genetic and genomic information to their patients with an understanding of associated ethical issues. This new direction in healthcare calls for nurses to integrate into their scope of practice the emerging field of genetics and genomics.

Why are genetic technologies important?

Genetic technologies are creating new sources of medical information for individuals, families, and communities that raise important ethical, legal, and social issues. Nurses need to be familiar with the nature and sources of genetic information so that they can assure privacy and confidentiality for their patients.

What is genetic research?

Genetic research is now leading to a better understanding of the genetic components of common diseases, such as cancer, diabetes, and stroke, and creating new, gene-based technologies for screening, prevention, diagnosis, and treatment of both rare and common diseases. Nurses are on the forefront of care, and therefore will participate fully in ...

What is the study of all the genes in the human genome?

However, a new field of research, called genomics, which is the “study of all the genes in the human genome together, including their interactions with each other, the environment, and the influence of other psychosocial and cultural factors” ( American Nurses Association, 2006 p. 9) has emerged.

What are the activities of a nurse?

Nurses are at the forefront of patient care, and will participate fully in genetic-based and genomic-based practice activities, such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies.

What is informed decision making?

Informed decision making and associated consent involve working to be as sure as possible that the individual understands the nature, risks, and benefits of the procedure, and that the individual gives consent without coercion (American Nurses Association, 2001; Skirton, Patch, & Williams, 2005 ). Genetic and genomic research is creating new areas for nursing involvement in the informed, decision-making process. As Skirton et al. pointed out, the increasing availability of genetic information and technology means that patients and families will be learning more about their genetic identity and beliefs related to this identity. The implication for nurses is that they will increasingly be involved in discussing these issues with patients in all areas of healthcare during the process of obtaining consent. Areas of informed decision making and consent in which nurses will be most involved include gathering family history and requesting medical information. Each will be discussed in turn.

What is the role of a nurse in requesting medical information?

When it is necessary to request information from the patient, it is important that the nurse explain the need to request the patient’s medical information and records so that the most accurate medical information can be obtained and appropriate recommendations can be made. There may be situations where it is necessary to collect medical information from the patient’s family members. In these cases the nurse can explain this need and the process to the family members and facilitate their written consent for the release of their medical information.

What are the applications of genomics?

Applications Of Genomics: Pharmacogenomics. Pharmacogenomics involves evaluating the effectiveness and safety of drugs on the basis of information from an individual’s genomic sequence. Personal genome sequence information can be used to prescribe medications that will be most effective and least toxic on the basis of the individual patient’s ...

How do scientists use genomic data?

Scientists use genomic data to identify desirable traits, and then transfer those traits to a different organism to create a new genetically modified organism, as described in the previous module. Scientists are discovering how genomics can improve the quality and quantity of agricultural production.

What is genome sequencing?

The introduction of DNA sequencing and whole genome sequencing projects, particularly the Human Genome Project, has expanded the applicability of DNA sequence information . Genomics is now being used in a wide variety of fields, such as metagenomics, pharmacogenomics, and mitochondrial genomics.

What are the primary sources of biofuels?

The primary sources of fuel today are coal, oil, wood, and other plant products such as ethanol.

What is DNA used for in forensics?

Information and clues obtained from DNA samples found at crime scenes have been used as evidence in court cases, and genetic markers have been used in forensic analysis. Genomic analysis has also become useful in this field. In 2001, the first use of genomics in forensics was published.

Why do genotypes differ?

For example, the genotypes may differ because the two groups are mostly taken from different parts of the world. Once the individuals are chosen, and typically their numbers are a thousand or more for the study to work, samples of their DNA are obtained.

What is a GWAS study?

A GWAS is a method that identifies differences between individuals in single nucleotide polymorphisms (SNPs) that may be involved in causing diseases.

Genetics in The Twentieth Century

The Human Genome Project

Current Genomic Research

Medical Research in The Twenty-First Century

• Obtaining the sequence of the human genome represents the end of a first stage in a long process toward understanding the makeup of life. For medicine to take full advantage of the advances in genetics, major challenges lie ahead. 1. Having the human genome sequence and knowing the DNA spelling variations among people will help reveal which genes c...

See more on genome.gov

Genetics in The Medical Mainstream

Summary