Although rare diseases are just that—rare—it’s still important for nurses to be aware of them or be able to find out about them if they find themselves treating patients who have them.
Ann Kriebel-Gasparro, DrNP, MSN, FNP-BC, GNP-BC, faculty member for Walden University’s Master of Science in Nursing program, understands a number of rare diseases and shares her expertise with us.
What makes a disease rare? How many rare diseases are there? Any idea why more than half who have them are children?
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as “orphan diseases” because drug companies were not interested in adopting them to develop treatments. The Orphan Drug Act created financial incentives to encourage companies to develop new drugs for rare diseases. The rare disease definition was needed to establish which conditions would qualify for the new incentive programs.
Other countries have their own official definitions of a rare disease. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people.
Currently, there are 7,000 or more rare diseases that have been identified. There are approximately 25-30 million Americans who have been diagnosed with a rare disease. Rare diseases can include infectious diseases, birth defects, genetic disorders, and cancers. Some of these rare diseases can be discovered on newborn screening tests. Unfortunately, many rare diseases are not currently tracked, so it is hard to keep track of how many rare diseases there are. A database is much needed, and many states are in the process of developing a database to track rare diseases. Children are affected through genetic or birth defects and may be diagnosed more quickly.
MedlinePlus tracks statistics on specific genetic diseases.
There is also a website that lists medical journal articles with statistics here: http://pubmed.ncbi.nlm.nih.gov. This can be a great resource to find a disease by name and using the terms “prevalence” and “incidence.”
The causes of rare diseases are currently not well known, but research is ongoing. The Institute of Medicine’s 2010 report indicates that 80% or more of rare diseases have a genetic origin, which can be inherited through parents or occur through a spontaneous gene mutation.
Because a majority of rare diseases are inherited, they are often manifested in childhood and diagnosed in children. Newborn screening may also contribute to the early diagnosis of rare diseases in children.
What are some diseases that are considered rare?
Some of the more common rare diseases include those that you have probably heard of in the media or in print, and include multiple sclerosis (MS), which affects about 90 people in 100,000. MS affects more younger and older adults.
Other more common rare diseases are cystic fibrosis, sickle cell disease, and Tourette’s syndrome. Because of newborn screening, many more common rare diseases like sickle cell, cystic fibrosis, and storage diseases can be diagnosed at birth. If treatments exist, they can be started immediately, saving lives.
An example of this is Karina, who has a rare disease called medium chain acyl-CoA dehydrogenase deficiency (MCADD), whereby she cannot burn fat for energy. Because of newborn screening and early detection, Karina is living a healthy and active life, which includes dancing. Her mother has put together a binder of the foods that Karina can eat, which she gives to her teachers and friends, and this keeps her healthy. Newborn screening often requires just a few drops of blood taken from the infant’s foot shortly after birth. If any anomalies are found, more in-depth genetic testing can be done.
Duchenne muscular dystrophy (DMD) affects the use of voluntary muscles in the body and is inherited, primarily affecting boys of all ethnic backgrounds. Normal development occurs initially, but between the ages of 2 and 6 the affected child may have difficulty walking, running or climbing, and struggle to lift their head due to a weak neck. Eventually, the heart and breathing muscles are affected, which leads to difficulty breathing, fatigue, and heart problems due to an enlarged heart. Even with the best medical treatment, young men with DMD seldom live beyond their early thirties.
Gaucher disease (Types 1, 2 and 3) is an inherited storage disorder where fatty substances build up to toxic levels in the spleen, liver, lungs, bone marrow, and sometimes in the brain. It is genetically inherited and affects both boys and girls. Symptoms of Gaucher Type 2 begin in infancy, usually by 3 months, and these children seldom live past 3 years of age.
Why is it important to raise awareness?
Rare diseases affect newborns, children, and families. Families often feel isolated and do not know where to get resources or how to have their child diagnosed, and their children are often misdiagnosed for an average of 10 years or more. More knowledge is needed about rare diseases by the general public—as well as all health care providers—so people with a rare disease can be diagnosed early, given lifesaving treatment, and allowed to have as comfortable, pain-free, and productive a life as possible. When families and patients band together to advocate, more money can be raised for research, to change legislation and to encourage pharmaceutical companies to develop drugs that will treat rare diseases.
Although many rare diseases do not yet have pharmaceutical treatments, many rare disease groups continue to advocate for the development of treatments that can enhance and prolong the lives of all people with rare diseases.
What can nurses do to raise awareness of rare diseases?
Nurses can join a rare disease advocacy group or become involved in research or education for patients and family members. Individual states have groups that advocate for legislation to improve life for those with rare diseases, including supporting drug development.
Some advocacy groups can be found here. More information on state-by-state advocacy can be found here.
How are the lives of people with rare diseases impacted?
People with rare diseases and their families often struggle for years trying to find a correct diagnosis for the illness or disease. They often spend years with multiple physicians who are not aware of the rare disease, screening, or treatment if there is any. Families share stories of traveling from state to state and spending large sums of money trying to find the right diagnosis, treatment centers, and a care team familiar with the rare disease. Currently, there is not a specific list of experts in specific rare diseases, but being a part of patient advocacy groups, participating in a clinical trial or reviewing articles in medical literature can be helpful in finding someone who is familiar with treating or researching a specific rare disease.
Childhood obesity is usually linked to overeating, fast food, and insufficient exercise. Now, researchers have found one more thing to add to the list. A study by the Children’s Hospital of Philadelphia has shown there are several genetic variants connected with adult obesity that are also detected in childhood obesity, including two new variants never associated with obesity before. These variants are said to increase the risk of obesity in children in the first few years of life. How these variants cause obesity is still not known, but according to the Associate Director of the Center for Applied Genomics, it is possible they affect the intestine. Childhood obesity has tripled in the United States over the past few decades, but human genetics have remained static, leading researchers to believe there are still environmental causes of obesity as well.
The researchers collected data from 14 studies conducted in the United States, Canada, Europe, and Australia. They scanned the genomes of 5,530 obese and 8,300 non-obese children. Findings displayed eight new signals of genetics associated with childhood obesity. For validation purposes, researchers studied these signals in 2,000 additional obese and 4,000 non-obese children; they found two signals associated with childhood obesity. Since it is possible for the signals to be picked up from the surrounding genes, additional research must be done in order to confirm the genes giving off the signals are actually the same genes responsible for childhood obesity. Additionally, further research could eventually lead to treatments for obese children.
“The burgeoning knowledge from the International Human Genome Project and other genetic research has made it possible to identify individuals at risk for disease, and to diagnose and treat disease in ways that until recently were not possible. These discoveries can improve health through early diagnosis, health promotion activities, more targeted treatments and increased understanding of prevention. All health care professionals need to understand the implications of genetic knowledge and develop skills competencies in genetics, including the social, ethical, legal, economic and policy implications.”
–Suzanne L. Feetham, RN, PhD, FAAN, senior fellow, Health Resources and Services Administration (HRSA)
If you think that as a minority nurse caring for patients in a hospital, teaching at an academic institution or working to eliminate racial and ethnic health disparities in a community-based setting, genetics has no bearing on your activities, think again. According to the National Human Genome Research Institute (NHGRI), all diseases have a genetic component, whether inherited or resulting from the body’s response to environmental stresses.
Today, learning about the role of genetics–the study of single gene disorders–and genomics–which recognizes that most health conditions involve multiple genes combined with environmental factors that contribute to the “expression” or triggering of those genes–in preventing and treating diseases that disproportionately affect minority populations is quickly becoming an imperative for nurses of color. However, because the knowledge gained from the breakthrough International Human Genome Project (HGP) is still so new, very few nurses–regardless of race or ethnicity–have had much exposure to this emerging field that is already beginning to revolutionize health care as we know it.
A primary reason for this is the fact that genetics and genomics have historically not been incorporated into the nursing school curriculum. Nine years ago, when Joyce Newman Giger, RN, EdD, APRN, BC, FAAN, professor of graduate studies at the University of Alabama at Birmingham School of Nursing, joined the faculty and wanted to teach genetics, she was surprised by the response. “They wanted me to go away,” she recalls.
Even when genetics is taught to nursing students, it is usually limited to the study of birth defects, never addressing adult onset diseases. But as Giger, who is African American, so aptly puts it, “Genetics is about diseases that occur from the womb to the tomb.”
If genetics is introduced in biology courses, it is not reinforced in the nursing core courses or clinicals, adds Cynthia A. Prows, RN, MSN, program director for the Genetics Program for Nursing Faculty (GPNF) at the Children’s Hospital Medical Center in Cincinnati.
Getting Up to Speed
Prior to the mid-1980s launching of the HGP–an international collaborative effort to map and sequence all of the genes that comprise human beings (known as our “genome”)–there was a lull of discoveries in that area. Since then, however, scientists have been amassing genetic information at warp speed.
As an example, the time necessary to identify a gene has accelerated from years to months to weeks and is now occurring daily. As of 2001, the sequence of the genome’s three billion base pairs of genes was approximately 90% finished, with completion expected in spring 2003.
“Previously, the teaching of genetics [in nursing] has been associated with single gene disorders, such as cystic fibrosis, and chromosomal anomalies, like Down Syndrome,” says Nancy James, RN, MA, program coordinator of the Genetics Interdisciplinary Faculty Training (GIFT) Program at Duke University in Durham, N.C. “Nurses must learn to start looking through a genetic lens because we now know that all common, complex disorders, such as diabetes, arterial sclerosis, cancers and depression, have a genetic component. As clinicians, we must be able to incorporate this genetic knowledge into practice.”
Another barrier is that some nurses are apprehensive about taking more advanced courses in the biological sciences, believing that it is too difficult a subject matter to comprehend. “Many nursing schools don’t integrate molecular biology into the curriculum because [they feel] ‘it is too hard for nurses to understand,’ but that’s ridiculous,” Giger argues.
“We take biology, chemistry, anatomy and physiology.” Still another factor is that many minority nurses don’t continue their education past the two-year diploma or associate’s degree level. Very often, the biggest obstacle to obtaining an advanced degree is financial constraints.
“Minority nurses tend to hold associate degrees because they can’t afford a four-year college,” explains Ora L. Strickland, RN, PhD, FAAN, an African-American professor at the Nell Hodgson Woodruff School of Nursing at Emory University in Atlanta. “But in order to be a scientist [and conduct genetic research], you have to have a PhD. With most minority nurses stuck at the associate degree level, we don’t have enough of them who can move to the PhD level rapidly.”
In the wake of the HGP, however, a growing number of nursing schools are attempting to remedy the genetics education gap, even if that means curtailing other subjects, such as chemistry, to make room. For example, the School of Nursing at the University of Washington in Seattle received funding from the Health Resources and Services Administration (HRSA) to begin teaching genetics four years ago.
“The impetus was the new advances in biotechnology and genetic research,” says Betty Gallucci, PhD, a professor at the school. “It was the feeling that genetics research will provide so many health benefits that nurses needed to be knowledgeable about it.”
Last summer, the university received an NHGRI-funded grant to expose underrepresented minority students to genomics education. The goal of the Genomics Outreach for Minorities program is to provide undergraduate nursing students with opportunities to gain experience in a research setting, such as a laboratory.
Teaching the Teachers
Many experts believe that the best way to teach nurses about genetics and genomics is to educate the educators. That’s why the goal of programs like GIFT and GPNF is to increase nursing faculty’s knowledge about genetics and its clinical application as well as to increase the amount of genetics content in nursing curricula.
“Genetics is advancing so rapidly that we really need to get people up to speed quickly,” Prows emphasizes. “And we’re not going to get genetics into the nursing curriculum unless we reach the nursing faculty and make them comfortable with teaching it.”
A key component of the GPNF, which is funded by the Ethical, Legal, and Social Implications (ELSI) Research Program of the NHGRI, is the annual onsite Genetics Summer Institutes (GSIs), now in its seventh year. “The nursing faculty that attend the GSIs learn genetics on a basic level,” says Prows. “We try to take away the mystery and provide a foundation for them so they can go back to their institutions and use the information either in their teaching or research.”
Last year, a grant from ELSI and HRSA’s Bureau of Health Professions, Division of Nursing, enabled the program to expand by adding an online Web-Based Genetics Institute (WBGI). Based on the GSIs’ content, the 18-week WBGI is team-taught by program instructors and guest lecturers.
The GPNF also holds a two-day genetics update workshop every two years for past GSI and WBGI participants. The third biennial workshop will be held this June. To encourage minority nurses to participate in both the GSI and the workshop, the GPNF waives the registration fee and provides travel scholarships through an ELSI Program grant. As a result, nearly 15% of the enrollment consists of nurses of color. Similarly, the Web program’s fee is waived for minority nurses.
Since attending the GSI in 1998, Sonia Cunningham, RN, MS, associate professor of nursing at the University of Texas at Brownville, has integrated genetics throughout her curriculum. She not only lectures on the subject, but also assigns research projects, writing assignments and other enrichment activities to provide additional genetics content. And she believes other nursing faculty will find it easy to do the same.
“It requires only commitment to the idea,” says Cunningham, who is African American. “Genetics needs to be integrated into the curriculum at every nursing school at every level.”
Based on a similar premise as the GPNF, the GIFT program at Duke University brings together graduate faculty teams from nurse practitioner, nurse-midwifery and graduate physician assistant programs from across the country to learn about advances in genetics and methods to facilitate incorporating genetics throughout graduate curricula.
The educational program consists of three parts. Phase I is an online genetics primer that addresses key concepts, such as genes, chromosomes, alleles, types of genetic mutations, genetic risk and inheritance patterns, and taking genetic family histories. Phase II is an intensive week of on-campus lectures, seminars, opportunities to practice family history-taking using standardized patients, cultural sensitivity workshops and strategies for faculty development and methods of curricular revision.
In the final phase, faculty team members have access to online resources–such as recorded lectures, teaching modules, faculty forums and “ask the expert” forums–to assist them in incorporating genetics into the curriculum at their own institutions.
The GIFT program will accept 10 faculty teams this year and 10 teams in 2004. The cost of team members’ participation is covered by a cooperative agreement from HRSA’s Division of Nursing and its Division of Medicine and Dentistry. In addition, participants receive a stipend to help them implement curricular change at their institutions. Although the program is targeted to faculty who teach at the graduate level, James points out that many of the participating institutions offer undergraduate nursing degrees. Therefore, team members can implement the educational tools in whatever program they feel is appropriate.
For nursing faculty who can’t attend a genetics institute or workshop, there is the Foundation for Blood Research’s Practice-Based Genetics Curriculum for Nurse Educators. This field-tested curriculum package consists of four teacher-assisted modules: ethical, legal, and social issues in genetic testing; high-risk pregnancy and prenatal diagnostic procedures; periconceptional prevention and prenatal screening; and late diagnosis and presymptomatic testing of genetic conditions. The package includes didactic materials, data collection materials, resource and supplemental educational materials, and evaluation methods.
Dale Lea, RN, MPH, APNG, FAAN, assistant director at Southern Maine Genetics Service, served as the principal investigator for the three-year grant from the National Institutes of Health and the NHGRI to develop the genetics curriculum modules. “It’s difficult for faculty to integrate a new concept into an already crowded curriculum,” she says. “So we wanted to develop an approach that would make that less of a barrier.”
Some nursing faculty members who have purchased the modules have used pieces of them to integrate an aspect of genetics into their curriculum, Lea reports. Others have created a genetic symposium, supplementing it by bringing in professors to talk about cultural issues, patients to talk about their experiences, or scientists to talk about research. Still others have used the modules for continuing education. Cunningham, for example, has used them to teach continuing education courses in genetics to graduate nurses in the community.
One other resource worth mentioning, even though it is not exclusively for faculty and emphasizes research rather than teaching and curriculum development, is the Summer Genetics Institute (SGI) sponsored by the National Institute of Nursing Research (NINR), Division of Intramural Research. Targeted to graduate students and advanced practice nurses as well as nursing faculty, this full-time summer training program features classroom and laboratory components designed to provide a foundation in genetics for use in clinical practice and research. The program is highly competitive, accepting only 14 to 18 participants each year.
Expert Advice
For More InformationGenetics Program for Nursing Faculty (GPNF)
www.cincinnatichildrens.org/ed/clinical/gpnf/default.htmGenomics Outreach for Minorities Program
www.depts.washington.edu/genomics/Genome/1/main1.htmGenetics Interdisciplinary Faculty Training (GIFT) Program
www.gift.duke.edu The International Society of Nurses in Genetics (ISONG)
www.isong.orgThe National Coalition for Health Professional Education
in Genetics (NCHPEG) www.nchpeg.orgHRSA, Bureau of Health Professions, Division of Nursing
www.bhpr.hrsa.gov/nursingNational Human Genome Research Institute
www.genome.govNINR Summer Genetics Institute (SGI)
www.nih.gov/ninr/research/dir/sgi.htmlPractice-Based Genetics Curriculum for Nurse Educators
www.fbr.org/publications/gencur-nursedu/nihdale2000.html
If you’re a nursing student at the undergraduate level who wants to learn more about the role of genetics in health care, the experts interviewed for this article suggest taking electives in the basic biological sciences, or better yet, attending a nursing school that includes genetics in its curriculum. Prows recommends asking your clinical instructor to assign you to patients who have illnesses with a hereditary component, such as sickle-cell disease, Huntington’s disease or breast cancer. Volunteer work with local chapters of groups dedicated to fighting these ailments, such as the Sickle-Cell Disease Association of America, can give students a first-hand look at those conditions, Gallucci suggests.
Graduate students pursuing a master’s or PhD should seek out individuals involved in genetic/genomic research who could serve as mentors. One way to make these contacts is to become a member of professional associations like the International Society of Nurses in Genetics (ISONG) or the National Coalition for Health Professional Education in Genetics, an interdisciplinary group that promotes education and access to information about advances in human genetics. “Attending ISONG meetings is a great way to make contacts, network and find out who’s doing genetic research in graduate programs,” says Gallucci.
Research-minded nurses with advanced degrees will also want to explore the opportunities offered through HRSA, NINR and the ELSI Research Program. The latter program is a rich resource for nurses, according to Lea, and you don’t have to have a PhD to participate in an ELSI project.
But perhaps the most exciting opportunities for nurse researchers of color are those available from the NHGRI as part of its Initiatives and Resources Related to Minority and Special Populations. In May 2001, the National Advisory Council for Human Genome Research approved an action plan “for the inclusion of underrepresented minority groups in research training, research collaborations, and education and outreach activities supported by all components of the [NHGRI].”
To achieve this goal, the Institute offers such resources as:
• Research training and career development programs for underrepresented minorities at all educational levels, from high school students to faculty.
• Opportunities to participate in collaborative research projects focusing on diseases that disproportionately affect minority populations.
• Community outreach and public education resources that nurses can use to help minority communities understand the implications of genome-related research.
• Funding opportunities–including research, career development, training and education grants–for researchers, faculty and students who are members of minority populations or affiliated with minority institutions.
“The area of genetics is a wide-open field,” concludes Strickland. “Although we know a lot, there’s still so much more to be known. If minority nurses aren’t involved in genetics research and applying genetic knowledge at the bedside, we will be left behind.”
HRSA Calls for More Genetics Education for Nurses
Fewer than 10 master’s-level and doctoral programs currently exist to prepare nurses in genetics, according to a recent report released by an expert panel convened by the Health Resources and Services Administration. The report, entitled “Expert Panel on Genetics and Nursing: Implications for Education and Practice,” identified five principles for improving genetics education among nurses:
• To promote access to quality health care for all, genetic education should focus on preparing providers to care for underserved, vulnerable and special needs populations.
• Academic nursing leaders and health professional faculty should be committed to a long-term plan to meet the genetic care needs of the public by 2010 and beyond.
• Education programs should be interdisciplinary and focus on the translation of genetic knowledge into practice and research.
• Genetic content should include molecular biology (genomics and protenomics) and the social, ethical, economic, and legal implications of genetic knowledge.
• The nursing workforce should be culturally competent; should reflect cultural, racial and ethnic diversity; and should be distributed geographically to serve in all areas of the country.
If you’re interested in an allied health career, you have a lot of options beyond the traditional health care jobs. To figure out if you’re interested in an allied health career with a particular focus in biological studies you’ll need to evaluate your interests further. You may be drawn to a particular type of health care work because of prior experiences. Someone whose family has been affected by an inherited disease might decide to be a genetic counselor, for example.
Or, if you’re a big fan of one of the CSI shows or other shows related to true crime on television, you might be interested in working as a forensic scientist.
Considering your own personal interests is a good start, but you need to do more. You must factor into your decision information about current work opportunities, longer-term job prospects and earnings potential. Some jobs require extensive education, but some do not. You might be able to get a job with a two-year degree, but some employers prefer a four-year degree. You need to decide if the additional training is worth it to you.
Consider on-going training and certification requirements as well. We will discuss the specific educational requirements required to pursue careers in biological science fields later in this article.
Careers in Biological Sciences
Did you know that some biologists work with drug companies to research and test new products? They also wind-up in government organizations to study the economic impact of biological issues like the extinction of wild animals, the protection of natural resources and environmental pollution. Biologists in areas such as bioinformatics and computational biology use mathematics to solve biological problems, such as modeling ecosystem processes and gene sequencing. Journalists and writers with a science background write articles about up-and-coming biological issues. Open up one of your biology textbooks; an artist with a strong background in biology undoubtedly created those illustrations.
Clearly, those with a background in biological sciences are needed in a variety of different fields.
There are so many directions to take an interest in an allied health care career that it may be difficult to narrow down your choices to a few. Once you do, however, you can begin to investigate the educational requirements and schools that offer programs for training in these fields. If you know you’re not sure what you want to specialize in, look for a training school that offers a big variety of possibilities. That way, if you do change your mind, you may be able to switch careers without changing schools.
Genetic Counseling
Every day science is learning more about human genetics and especially about how a person’s genes can affect their health. And you don’t have to have a Ph.D. in genetics to get involved. You could be a genetic counselor—someone who works with people who have genetic disorders, inherited diseases, or those who are at risk for genetic disorders. Genetic counselors work with other people in the medical profession such as medical specialists. Many provide prenatal counseling to people, but other types of jobs are also possible.
The work pays well, but not as much as some allied health care jobs. In 2002 the median income for counselors with a master’s degree and five years experience ranged from $47,000 to $56,000. Specialization in a specific disorder might help increase the range.
As a genetic counselor, your workday may include one-on-one sessions with people who are frightened or upset because they are discovering information about their genetic disorder. Therefore it is important that you posses a good bedside manner. Often you will have to explain, in every-day language, patients’ options and convey information about their disorder. If the problem has not yet been identified, you may work with them to learn more about their family’s medical history and order testing.
Some genetic counselors spend the majority of their time educating people and serving as a resource for patients and other health care professionals. Others research specific genetic diseases—and not necessarily in the laboratory. Genetic researchers sometimes work in communities of people who have close genetic ties, such as the Amish communities in Pennsylvania and Ohio. By talking to people in these communities, the counselors are able to track the spread of inherited diseases.
As a genetic counselor, you could also find work at a biotech company researching, designing or selling tests related to genetic disorders. As more becomes known about genetic diseases, demand for people who are able to do this kind of work will continue to grow significantly.
Working conditions for genetic counselors vary with the type of work they do. If you work with people as part of a health care team, you might spend most of your time in an office environment, even if the office is located in a hospital. Weekend and night hours aren’t required. On the other hand, going out in the field may require you to meet with people in their homes at their convenience.
Fulfilling Requirements
To become a genetic counselor, you will have to get a master’s degree from one of 23 accredited U.S. graduate programs. (For a listing, go to www.gradschools.com/ listings/menus/genetic_cnsl_menu.html.) To become a certified counselor you must complete enough documented clinical work and pass the American Board of Genetic Counseling’s certification exam.
To be admitted to one of the master’s degree programs, you must first complete your undergraduate training. A relevant major such a biology or chemistry will help because it will help you meet some, if not all, of the graduate program pre-requisites. Undergraduate degrees in allied health including nursing or public health also provide a good foundation. The prerequisites for master’s degree programs in genetic counseling vary, so you have to research the requirements of particular colleges or universities. To be admitted to the Arcadia University (Glenside, Pa.) program, for example, you need to have taken biology, chemistry, statistics and psychology as an undergraduate. There are other requirements such as a satisfactory score of 1,000 or higher on the Graduate Record Examination.
If you know you’re interested in a career as a genetic counselor, the best approach is to start checking out master’s degree requirements while you’re still an undergraduate. Doing so will help you avoid having to take extra classes to meet pre-requisites.
Some programs have a specific emphasis. Brandeis University’s (Waltham, Mass.) master’s degree genetic counseling program has a special emphasis on inherited diseases that can cause disabilities. It is one of the few such programs in the country. Beth Rosen Sheidley teaches in the genetics program at the University, but worked for years as a genetic counselor working with under privileged people. She was interested in severely disabling diseases in which genetics are known to play a part such as autism and bi-polar disorder. Of her experience at the college, she says she chose Brandeis because of the focus of the program. “Among all of the genetic counseling programs in existence in 1992, Brandeis was the only program that focused on disability awareness issues. Today it is still the case that Brandeis puts an emphasis on exploring the perspectives of individuals and families living with disability.”
Real World CSI
If you have ever watched any of the CSI programs on TV, you probably have an idea about the kinds of work forensic scientists do. Whether that idea is totally accurate is debatable, but if you find the shows fascinating, then it’s worth exploring this kind of work in the real world. You’ll find the majority of jobs are with local and state governments, and you won’t spend much of your time in a routine office environment. You’ll either be in the crime lab, a morgue or on the crime scene.
The word “forensics” actually means “according to the law,” so people who do forensic work apply scientific methods to all kinds of legal issues. There are forensic accountants who examine company financial records, but most of the people who work in the forensic field examine physical evidence. There isn’t a lot of information about salary ranges for people who work in this field, but beginning salaries for crime scene technologists can start at $20,000. More experience means more money—experienced crime lab or crime scene personnel can make as much as $85,000. Lab directors and medical examiners can earn $100,000 or more. The bigger the city or state, the more money they pay. A lot depends on a particular city’s budget and crime rate.
According to Dr. Dale Nute, adjunct faculty member of the school of criminology and criminal justice at Florida State University, there are six general areas of forensic science practice: medical examiner, crime laboratory analyst, crime scene examiner, forensic engineer, psychological profilers, and people who provide specific forensic technical assistance (composite drawing, etc.).
He says that, of the group, medical examiners make the most money. They are the people who conduct autopsies of suspicious deaths, which can mean working odd hours and requires a medical degree. If you’re interested, get started in medical school, he says. “Select a residency that provides a forensic emphasis.” Taking a crime investigation and detection course is also a good idea and probably won’t be available in medical school.
Crime laboratory analysts are the folks who hang out in the crime lab looking at samples taken from a crime scene, including body fluid, tissue, hair and fibers. The work can be routine, but the hours are reasonable. Doing this kind of work usually requires a four-year undergraduate degree in a natural science. Nute recommends a degree in chemistry unless you’re interested in doing DNA analysis. In that case, a biology major with an emphasis in genetics would be required.
Crime scene examiners (also known as crime scene investigators) spent most of their working hours making detailed studies of crime scenes. They often try to reconstruct the crime using blood spatter patterns, examining bullet holes, and looking for other clues. After making the on-scene analysis, they usually need to write up their findings. So, people who do this kind of work have to like paying attention to detail and be willing to put the detail down on paper or testify to them in court.
Nute recommends a four-year degree in “either a natural science with an emphasis in law enforcement and crime scene processing or a criminal justice degree with an emphasis in natural science.” He doesn’t feel that an undergraduate degree in forensic science is necessary because he feels that learning how to do science as an undergraduate is the best preparation for a long-term career. Specialization can be done in graduate school. That said, however, there are a few dozen colleges and universities that offer bachelor’s degrees in forensic science.
You don’t need a bachelor’s degree at all for some of these jobs. You can get started as a crime scene technician, though, with as little as a certification earned online. Kaplan University offers such a program. There are also two-year programs that will get you on the crime scene in a legal way. To get a job as a crime scene examiner, though, a four-year degree along the lines of what Nute suggests is the way to go. Check local and state requirements carefully for additional requirements. Some require you to be a police officer first or require certification.
If you want to spend more than a few years studying, you’ll be preparing yourself for some of the best paying jobs, such as a lab director. With a Ph.D. in forensics you can consult, go into administration or teach at the college or university level. To find out more about forensic science careers, visit the Web site of the American Academy of Forensic Sciences at www.aafs.org.
Good Jobs, Excellent Prospects
Pretty much all allied health careers are on track to chug along at a healthy pace for the foreseeable future. But not many areas of allied health are as exciting as those in forensic science or as potentially life-altering as the work done in genetic counseling. And that’s just the beginning of the fields you can explore in biological science. You can travel to locations all over the world to research the natural world; develop public health campaigns against life-threatening diseases; work towards environmental management and conservation; or dedicate your life to educating others in the classroom, lab or in the field. Or as a biotechnologist you could work to improve the products we use everyday, or enhance the technology we to adapt agriculture, food, science and medicine.
From the very beginning, the study of biology teaches one to ask questions, explore the world around them and solve existing problems. If you possess that innate interest and curiosity, then this is the field for you. And no matter what career you choose in the biological sciences, you will be pursuing a career that is immensely satisfying and inspiring.
Thanks to the Human Genome Project and the identification of the BRCA1 and BRCA2 gene mutations, which increase the risk of breast cancer, many women can now take advantage of genetic testing to find out in advance if they are at risk for developing the disease. Having this knowledge can increase their chances for breast cancer prevention or early detection. But despite these advances, say researchers from Stanford University, many Asian American women with BRCA mutations seem to be falling through the cracks.
According to the research, published in the October 10, 2008 issue of the Journal of Clinical Oncology, two of the most widely used prediction models for identifying women who may be BRCA mutation carriers often fall short in identifying Asian women who are likely to have BRCA1 and BRCA2 mutations. As a result, says the study’s lead author, Dr. Allison W. Kurian, “Asian American women with BRCA mutations may not be referred for genetic testing as often as they should be.” The findings also suggest that BRCA mutations may occur more frequently in Asian women than previously thought.
The researchers tested the effectiveness of two prediction models, BRCAPRO and Myriad II, using a sample of 200 Asian women and 200 white women. Both models, which are based on a woman’s personal and family history of breast cancer and ovarian cancer, are widely used in the U.S. to identify at-risk women who would benefit from genetic testing. But while the models accurately predicted the number of white subjects who turned out to be BRCA mutation carriers, they were far less accurate when it came to the Asian subjects. Of the 49 Asian women who were found to have the mutations, only 25 were predicted by BRCAPRO and 26 by Myriad II.
