Genetic counseling as a profession began in 1969 with the establishment of the first Master’slevel graduate program in genetic counseling. As a process, however, genetic counseling has evolved over a longer period of time. The term was coined in 1947 by Sheldon Reed, a geneticist, who used the term “genetic counseling” to describe the process of providing genetic information and support to families. He believed that an “important requirement of the counselor was to have a deep respect for the sensitivities, attitudes, and reactions of the patient.”1 Physicians who worked in the early medical genetics clinics hoped to gain an understanding of the genetics involved in disease. At that time, laboratory tests for genetic conditions did not exist and the practice of genetic counseling was limited.
During the 1950s and 1960s, however, cytogenetics advanced and amniocentesis emerged. It became possible for physicians to diagnose chromosomal abnormalities in their patients. In addition, amniocentesis could be used to detect Barr bodies in fetal cells. Barr bodies allowed the prediction of fetal sex.2 This information could be applied to families at risk for a sex-linked genetic disorder. Eventually, by the mid-1960s, amniocentesis was used to construct a human karyotype of the fetus.3 Amniocentesis did not come without risks. Therefore, not only did the information from amniocentesis have to be conveyed to the family, but also the risks, limitations, and benefits of the procedure had to be explained. At this point, genetic counseling was no longer limited to a few specialty centers. The number of centers offering these services grew from 10 in 1951 to 287 in 1977.4 Medical professionals realized that conveying genetic information required a particular subset of skills, and the first genetic counseling program opened.
As society progressed into the 1980s, cytogenetics, molecular genetics, and biochemical genetics progressed too. The role of the genetic counselor in the prenatal setting expanded to include information obtained from examining enzymes in amniotic fluid.5 In addition, genetic counselors entered predisposition testing when the gene for Huntington disease was mapped with DNA markers.6 Predisposition testing continued to grow in the 1990s. At which time, several cancer-predisposing genes were cloned. These genes caused an increased risk for cancers, such as colon, breast, and ovarian.7 As centers began offering predictive DNA testing to affected individuals and family members at risk, genetic counselors entered a new sector: cancer counseling.
The sequencing of the human genome and identification of cancer predisposition genes, such as BRCA1 and BRCA2, rapidly increased the need for individuals with cancer genetic expertise and experience in genetic counseling. Now, we have direct-to-consumer marketing of hereditary cancer genetic testing, which has increased public awareness of genetic testing. And healthcare professionals face increased pressure to incorporate genetic testing into their practice— either by providing genetic counseling in-house or referring to experts for consultation. Multiple professional guidelines, including the Am erican College of Medical Genetics, American College of Obstetricians and Gynecologists, American Society of Clinical Oncology (ASCO), National Comprehensive Cancer Network, National Society of Genetic Counselors (NSGC), Oncology Nursing Society, and Society of Gynecologic Oncologists, state the importance of both pre- and posttest genetic counseling. Often, community hospitals are looked upon to meet the needs of their community and physicians. Creating a position and hiring the correct individual can be challenging for an administrator. In the rapidly evolving field of cancer risk assessment, however, the task has an additional layer of complexity. Not only is the field in its infancy, but it also is largely unregulated.
Concern has been expressed about the potential for harm when genetic testing is performed outside of an expert in genetics.8 Brierley and colleagues identified 3 themes of negative outcomes when cancer genetic testing was performed without genetic counseling by an expert in genetics9: wrong genetic test ordered, genetic test results misinterpreted, and inadequate genetic counseling. An abstract presented at the 2011 ASCO annual meeting identified similar themes and concluded that physicians appear to be the most vulnerable group for lawsuits related to genetic technologies and the number of cases likely will increase substantially. Case review demonstrated that physicians were held liable for various aspects of genetic counseling and testing, including failure to take an adequate family history, recommend the appropriate testing, refer to a geneticist or genetic counselor, interpret the test results correctly, interpret the test results in a timely manner, recommend the appropriate risk mitigation strategies, and failing to disclose their patients’ test results to at-risk family members.10
In addition, healthcare payers have expressed similar concerns. In 2009, UnitedHealthcare launched the BRCA Genetic Testing Notification and Counseling program, which consists of prior notification of BRCA genetic testing and improved access to genetic counseling by certified genetic counselors. The document states that although genetic tests “may provide valuable information to both doctors and patients, many genetic tests are ordered and performed with incomplete information, unclear indications, and insufficient support services such as test interpretation and genetic counseling.”11Aetna is funding a study to help address questions “…about whether these tests are being offered to the women who can most benefit— consistent with the evidence-based guidelines for this testing—and whether the information learned from testing is being put to best use.”12 Priority Health states that for hereditary cancer syndromes, “Genetic Counseling must be done prior to testing by a board certified Genetic Counselor or Geneticist that is independent of the laboratory performing the test.”13
Professional guidelines, insurance carriers, and case review demonstrate the importance of genetic counseling by trained experts. Genetic counseling has been provided by a variety of professionals with genetics expertise, including MD and PhD geneticists, genetic counselors, and nurses with specialized training in genetics. However, the use of the term “genetic counselor” or another title containing the term “genetic” by an in - dividual does not necessarily denote he or she has obtained a certain proficiency in genetic counseling. Although the NSGC defines genetic counselors as “… healthcare professionals with special ized graduate training in the areas of medical genetics and counseling,”14 in many states genetic counselors do not have licensure. Without title protection, anyone in that state can use the term genetic counselor. A healthcare provider, therefore, could unknowingly be referring to an individual using the term genetic counselor who does not have graduate training in genetic counseling or even a basic level of proficiency. Not only does this place consumers at risk, but it also potentially places healthcare providers using these untrained individuals at risk. So how does an administrator or provider know an individual they are using has expertise in genetics?
In addition to asking a professional about their training and experience, an individual can look for particular credentials to determine a provider’s level of expertise. There are 3 main groups of professionals with advanced degrees and experience in genetics. Each group uses particular acronyms to designate their credentials and has their own unique strengths.
- Advanced Practice Nurse in Genetics (APNG). An APNG has graduated from a graduate nursing program and completed a professional portfolio review process (www. geneticnurse.org/advancedpractice apng.html).
- Certified Genetic Counselor (CGC). A CGC has at least a Master’s degree in genetic counseling and has passed a board examination (www.abgc.net).
- Diplomate, American Board of Medical Genetics (DABMG) or Fellow, American College of Medical Genetics (FACMG). In dividuals using the acronym DABMG or FACMG are physicians who have completed a residency in genetics and passed a board examination. DABMG, although not widely used, is a physician certified by the ABMG, whereas FACMG is an individual certified by the ABMG and is a member of the American College of Medical Genetics (www.abmg.org).
- Reed S. Counseling in Medical Genetics. Philadelphia, PA: WB Saunders Co; 1955.
- Fuchs F, Riis P. Antenatal sex determination. Nature. 1956;177:330.
- Steele MW, Breg WR. Chromosome analysis of human amniotic-fluid cells. Lancet. 1966;1(7434):383-385.
- Marks JH. Masters level training programs for genetic counselors: an eight year report. In: Porter IH, Hooks EB, eds. Service and Education in Medical Genetics. New York, NY: Academic Press; 1979:351-360.
- Boué A, Muller F, Nezelor C, et al. Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis. Hum Genet. 1986;74:288-297.
- Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983;306:234-238.
- Offit K. Clinical Cancer Genetics: Risk Counseling and Management. New York, NY: Wiley-Liss, Inc; 1998.
- Greendale K, Pyeritz RE. Empowering primary health professionals in medical genetics: how soon? how fast? how far? Am J Med Genet. 2001;106:223-232.
- Brierley KL, Campfield D, Ducaine W, et al. Errors in delivery of cancer genetic services: implications for practice. Conn Med. 2010;74:413-423.
- Lindor RA, Marchant GE. A review of medical malpractice claims related to clinical genetic testing. J Clin Oncol. 2011;29(suppl):Abstract 6073.
- UnitedHealthcare. BRCA Genetic Testing Notification and Expanded Access to Genetic Counseling. August 16, 2009. www.unitedhealthcareon line.com/b2c/CmaAction.do?channelId=f3478c10d2152 210VgnVCM1000002f10b10a____. Accessed August 5, 2011.
- Aetna supports first national study on communitybased use of genetic tests for cancer risk [press release]. September 15, 2010. www.aetna.com/news/new Releases/2010/0915_BRCAesting.html. Accessed August 5, 2011.
- Priority Health. Genetics: counseling, testing, screening. Medical Policy No. 91540-R5. August 2010. www.priorityhealth.com/provider/manual/auths/~/media/ documents/medical-policies/91540.ashx. Accessed August 5, 2011.
- National Society of Genetic Counselors. Patient FAQs. www.nsgc.org/Home/ConsumerHomePage/Patient FAQs/tabid/338/Default.aspx. Accessed August 5, 2011.
- National Society of Genetic Counselors. States issuing licenses for genetic counselors. July 1, 2011. www.nsgc.org/Advocacy/StatesIssuingLicensesforGenetic Counselors/tabid/347/Default.aspx. Accessed August 5, 2011