Ethical, Legal and Social Issues
Over the past decade, significant advances in genetic testing and technologies have altered the clinical management of individuals. Advances in genetic testing are also accompanied by a string of new challenges related to the ethical, legal, and social issues (ELSI) for our society.
Genomic advancements in testing and diagnosis often outpace the development of therapeutic treatments. Although largely unsupported by professional medical associations, private companies continue to promote genetic tests to the public (direct-to-consumer tests). As primary care providers grasp the new implications of genetic and genomic advances, an understanding of ELSI will allow them to anticipate these new challenges and provide better care for their patients.
Research has found that a frequent barrier to practicing genetic medicine in a primary care setting is that providers are unsure how to provide adequate information and support to their patients, particularly in the areas of ELSI. Since PCP are frequently first to interact with patients seeking genetic information, they are encouraged to review resources to better equip them for these sensitive interactions.
The AAP surveyed its members regarding trends that will impact the future of pediatrics as part of a large-scale forecasting and strategic planning effort. One of the 8 megatrends identified from this effort was that of ongoing medical advances -- with genomics and gene therapies being specifically mentioned. The value of medical advances for helping to treat and/or eliminate life-threatening illnesses was recognized. It was also noted that it may be difficult for providers to keep up with the accelerated advancements. Some challenges include validating, translating, and integrating new knowledge into practice. It is critical for the PCP to review and understand the ethical considerations inherent to new technologies and treatments.Pediatrics in the Year 2020 and Beyond: Preparing for Plausible Futures
, November 2010
Authors: AJ Starmer, JC Duby, KM Slaw, A Edwards, LK Leslie, and Members of the Vision of Pediatrics 2020 Task Force
Advances in genetic research hold particular promise in the diagnosis and treatment of childhood diseases. Unfortunately, the rate of new developments in testing and screening often outpaces the formulation of treatment and preventive therapies -- in some cases leaving no room for improved management and care delivery for these patients. Providers -- and their patients -- should be aware of the potential risks associated with genetic testing on children.
The AAP Committee on Bioethics has issued a statement on Ethical Issues with Genetic Testing in Pediatrics. This statement reviews considerations for the use of genetic technology for newborn screening, carrier testing, and testing for susceptibility to late-onset conditions. The statement provides recommendations for promoting informed participation by parents for newborn screening and limited use of carrier testing and testing for late-onset conditions in the pediatric population.
The AMA Guidelines offer principles to guide appropriate decision making for genetic testing of children.
On the Ethics of Clinical Whole Genome Sequencing of Children
Published: Pediatrics, July 2013
Authors: T May, KL Zusevics, and KA Strong
Testing Children for Adult-Onset Genetic Diseases
The Committee on Bioethics of the AAP advises against genetic testing of children for conditions that have their onset in adulthood. However, patients may seek genetic testing of their children especially for situations in which a genetic disease is known to be present in the family for a variety of reasons. These requests create a dilemma for pediatricians; in particular because adult-onset diseases, and their interventions, differ from condition to condition. The publication, Testing Children for Adult-Onset Genetic Diseases, offers case examples and strategies for providers faced with this dilemma.
Next-generation sequencing technologies, including whole-genome and whole-exome sequencing will be increasingly more common in pediatric research. One consequence of these new technologies is the increased likelihood of "The Incidentalome." This refers to the identification of individual genomic research finding that are incidental to the original purpose of testing by chance when sequencing large parts of the genome. While many believe that there is some duty to disclose individual genetic research results to research subjects, the issue is further complicated for pediatric patients due to the nature of personal decision making and the effects of being informed of adult-onset conditions at a young age. An article by Khan, Badgett, and colleagues explores this issue further in Disclosure of Incidental Findings from Next-Generation Sequencing in Pediatric Genomic Research.
With the exception of state-mandated newborn screening, all genetic tests are voluntary. Testing for genetic conditions can be complex and genetic tests have many limitations. A positive result does not necessarily confirm a diagnosis, and a negative result does not always rule out the condition. Due to limitations in technology, genetic testing may lead to unanticipated results.
Genetic testing often requires obtaining informed consent from the patient or guardian, and many times this form is provided by the laboratory testing company or the provider’s medical institution.
Visit Columbia University's Department of Pathology and Cell Biology Web site for examples of genetic testing informed consent forms. These, or similar, requisitions include the reasons for ordering testing and the implications of each possible test result for the patient.
The Genetic Information Nondiscrimination Act (GINA) was passed in May 2008 and went into effect November 2009. GINA was created to address the concern that a person’s genetic information could be used against someone in health insurance and employment decisions. This fear has been cited as a significant barrier for patients to obtain a genetic test.
As a result of GINA, group and individual health insurers cannot use a person’s genetic information to:
- Set eligibility requirements;
- Establish premium or contribution amounts; or
- Request a person undergo a genetic test.
Employers cannot use a person’s genetic information to:
- Make decisions about hiring, firing, job assignments, or promotion; or
- Request, require, or purchase genetic information about an employee or family member.
Limitations of GINA:
- Does not provide protection when a condition is already diagnosed or manifest;
- Does not apply to life, disability, or long-term insurers.
The following resources can assist providers and families to understand the benefits and limitations of GINA legislation and be able to assist families in navigating these issues:
- The National Coalition for Health Professional Education in Genetics has a discussion guide for clinicians about GINA legislation.
- The Department of Health and Human Services has prepared a Fact Sheet for researchers and health care professionals regarding the overview and implications of GINA legislation.
- The Genetics and Public Policy Center was created in 2002 at Johns Hopkins University by Pew Charitable Trusts to help policymakers, the press, and the public understand and respond to the challenges and opportunities of genetic medicine and its potential to transform global public health. The Genetics and Public Policy Center has an extensive Facts, Questions, and Answers section about the implications of GINA legislation for patients. Any remaining questions may be posed to the center staff on the "Contact Us" page.
Ethics in Genetics: Online CME Opportunity
eDoctoring, funded by the NIH, is composed of three interconnected tools that develop skills in patient-physician communication and counseling related to ELSI issues in genetics, including communication within families about genetic risk and managing the primary care and medical genetics interface. This online CME opportunity is geared for all levels of health professionals, and is particularly useful for primary care providers.
eDoctoring offers 25 simulated clinical cases, 15 interactive tutorials, and a virtual library containing numerous articles, fast facts, and video clips arranged in the following content areas:
- Ethical, Legal, and Social Implications of Genetic Testing
- Palliative and End-of-Life Care
- Prostate Cancer Screening and Share Decision Making
Users may select from pre-organized CME courses (6 or 12 hour courses), or build their own learning course with cases and tutorials of particular interest to them.
"Genetic Dilemmas in Primary Care" an educational program about the medical and ethical challenges raised by genetic testing in primary care practice
The Genetic Dilemmas program is designed for family physicians, internists, obstetricians and gynecologists, pediatricians and advance practice nurses, as well as other primary care clinicians. It includes a one hour case-based videotape and a printed Viewers Guide, discussion points, and an annotated resource list. This project -- funded by a grant from the National Institutes of Health -- was created in cooperation with The Hastings Center and Columbia University, College of Physicians and Surgeons. Goals of the educational activity include:
- Increase awareness of the psychological and social implications of genetic testing
- Increase understanding of the current accuracy, reliability, and implications of genetic testing in general, with specific emphasis on testing for inherited breast and ovarian cancer, cystic fibrosis, and familial adenomatous polyposis
- Enhance understanding of an expanded informed consent process for genetic testing that will promote meaningful dialogue between caregiver and patient and facilitate shared decision-making
World Health Organization (WHO)
WHO's Human Genetics program aims to provide information and raises awareness within the health sector, government, and public on the health challenges and opportunities within the new and rapidly developing science of human genetics. The WHO ELSI Web site overviews the issues and concerns around human genetics and public health, and, in particular, addresses ELSI of genetics.
The WHO published guidelines for health care professionals entitled, Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services. The guidelines are based on general principles of medical ethics including respect for the autonomy of persons, beneficence, non-malfeasance, and justice.
Managing incidental and pertinent findings from WGS in the 100,000 Genome Project
A discussion paper from the Foundation for Genomics and Population Health, April 2013
Authors: Allison Hall, Nina Hallowell, and Ron Zimmern
In an effective medical home, the patient's cultural background, including beliefs, rituals, and customs, are recognized valued, respected, and incorporated into the care plan. In pediatric primary care, all efforts are made to ensure that the child or youth and family understand the results of the medical encounter and the care plan, including the provision of (para)professional translators or interpreters, as needed.
Practicing culturally competent care as part of a medical home is particularly important in regards to genetic medicine due to increased sensitivity to ethical issues and cultural differences. Within genetic medicine, issues of consanguinity, ethnicity, and patient confidentiality are issues with a particular need for enhanced understanding and competence by the provider.Resources
- National Center for Medical Home Implementation -- Care Partnership Support Site
- Cultural Competence -- It All Starts at the Front Desk
National Center for Cultural Competence (NCCC)
The Genetic Counseling Cultural Competence Toolkit (GCCCT) was made possible through the Jane Engelberg Memorial Fellowship grant and the National Society of Genetic Counselors to improve the delivery of culturally responsive, client-centered genetic counseling to diverse populations and to reduce health disparities.
The cases provide structure for self-reflection, skills development, and consideration of various approaches for dealing with different cultures and health beliefs. The toolkit includes 9 cases, each linked fundamentally to the genetic counseling process and explores issues of culture(s) and/or language(s) in the context of one step in the genetic counseling process.
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