The issue of genetic testing brings up a lot of ethical questions, so how does one know if it’s right for them? We sat down for an interview with a genetic counselor to find out.
BL: You’re a genetic counselor, which is a relatively new career path. What is genetic counseling, and how did you get into this field?
Merideth: Genetic counselors provide information and assistance to patients facing decisions about their genetic health. While many health care professionals provide some type of genetic counseling to patients as part of their role, genetic counselors have specialized training in medical genetics and counseling.
When compared to other careers in the medical field, genetic counseling is a relatively new career path, but the first genetic counseling training program graduated its first class roughly 50 years ago. Today, there are more than 4,000 genetic counselors in the US. Recognition of and appreciation for the profession has definitely grown over the years; though, slower than genetic counselors would like!
I was unaware of the profession until late in my undergraduate training, despite always having a strong interest in genetics and seeking out opportunities that would prepare me for a future in the medical field. During a lecture, a genetics professor happened to mention that a couple wanting to know about their risk to have a child with a genetic condition could talk to a genetic counselor. Yet it wasn’t until later, while I was in graduate school studying genetics, that I realized I would be well-suited for a career in genetic counseling – one that would allow me to spend time educating patients about genetics and aiding in their decision-making, while staying on the forefront of medical genetics and public health research. I stepped back from my formal education and took the time to learn even more about the field, shadow genetic counselors, and learn more about patient advocacy through several volunteer experiences. All of my experiences further supported my interest in the field, and I entered a training program soon thereafter.
BL: How has having the human genome changed medical diagnoses and treatment?
Merideth: Before whole genome sequencing became possible and cost-effective, health care providers could only order tests on individual genes or panels of multiple genes possibly related to a patient’s symptoms.
Health care providers can now have a patient’s whole genome or whole exome (the part of the genome that codes for proteins) sequenced by a clinical lab. This allows them to receive information on all known genes via one test. This is a more efficient and often cost-effective approach when a patient is suspected of having a very rare disease and will result in a better chance of diagnosis. It allows health care providers to receive information on genes that are less understood and not clinically available to order as single-gene tests or as part of a genetic testing panel related to particular genetic conditions.
Regarding treatment, research based on sequencing data allows health care providers to look for specific genetic changes in tumor genomes that suggest a patient may be more or less likely to respond to a particular type of cancer drug treatment.
BL: Say a couple is considering starting a family, and one person has a genetic disease. Walk us through how a genetic counselor might work with them to understand their options and make an informed decision.
Merideth: In this situation, the genetic counselor would likely start by gathering information from the couple. What has their experience been with this condition? What do they know about how this particular genetic condition is inherited? Would they want to know if any future children were going to have the condition before they were born? Would they want to avoid having a child with this condition? These types of questions can help a counselor assess the couple’s current understanding of medical information in addition to their perceptions and values and even cultural and religious beliefs.
Counseling would include discussing the couple’s chance to have a child with the genetic condition (which would depend on the inheritance pattern for the condition) and likely if they could expect any signs or concerns during a pregnancy if the baby were to have the same genetic condition.
A couple’s options can vary based on the type of genetic condition one of the partners has been diagnosed with. If the genetic condition has been diagnosed with a clinical test result, the couple will have several options. It may be that the partner with the condition needs to pursue genetic testing before risk can be accurately assessed. In some circumstances it may be appropriate for the partner who does not have the genetic condition to pursue genetic testing before a pregnancy to better understand potential risks.
Once a genetic diagnosis has been confirmed, a couple typically has several options. They can pursue a natural pregnancy and test the baby after birth; pursue a natural pregnancy and test for the condition during the pregnancy; or pursue in vitro fertilization (IVF). With IVF, they can have each embryo tested for the condition and choose one without the condition for implantation. (This is called pre-implantation genetic diagnosis.) If it is an adult-onset condition with no health risks to a pregnancy, infant, or child, the couple may choose to do nothing and allow the child to decide when or if they would like to be tested for the condition in adulthood. In many cases, health care providers will recommend against prenatal genetic testing for adult-onset conditions.
A genetic counselor would likely present a couple with these options, address pros and cons of procedures based on the couple’s goals and interests, and answer questions.
BL: You specialize in cancer genetics. That must involve some devastating conversations, especially when the cancer is late-stage and there are no remaining treatment options. How do you help patients and their families cope? How do you cope?
Merideth: A patient may interact with a cancer genetic counselor shortly after diagnosis or long after diagnosis, and cancer genetic counselors often see many patients who have not been diagnosed with cancer. Perhaps they are only beginning to learn about their personal risk of developing cancer.
Having said that, genetic counselors do talk to patients and families in distress. On top of the difficulties that come with dealing with a cancer diagnosis, some patients may be upset by a negative genetic test result if they were hoping for some type of explanation for their cancer diagnosis or for a genetic finding that would make them a candidate for a treatment when others have failed. Others may feel guilty if they find out that they may have passed on a genetic change to a child that puts them at an increased risk for cancer.
As part of helping patients decide what genetic tests may or may not be beneficial to the them, genetic counselors will often offer support by taking the time to listen to patients and families talk through their specific stories of how cancer has affected their lives and their family members’ lives.
Some patients find it helpful to talk to other individuals facing similar diagnoses or risks or who have already had the procedures they’re now facing. Genetic counselors can connect them with specific support groups or sources of information. These organizations may focus on a specific cancer type or hereditary risk for cancer and focus on supporting patients and/or their family members who are assisting with their care.
Genetic counselors may also be involved in referrals based on a patient’s psychological needs, or may help in identifying research trials for patients with or without cancer.
Like members of many other health professions, I think genetic counselors try to be attuned to any job-related burnout. Working directly with patients who are trying to make difficult decisions or who are distraught can take its toll. Some cases may hit too close to home at certain times in our lives. We do our best to recognize when we need to take a step back for our own well-being (and for our patients’ well-being). We take time off when needed and possible. We seek the counsel and support of others inside and outside of the profession when appropriate.
BL: Some of your colleagues work in the area of prenatal genetic testing, which is giving parents an unprecedented level of knowledge about and control over their offspring. What kind of tests are standardly performed today, and what new tests are in development?
Merideth: Currently patients considering a pregnancy are typically offered what’s called “carrier screening” typically for one or more “recessive” genetic conditions. Recessive conditions manifest when a person has two non-working copies of a gene. When a person has one working copy and one non-working copy, they are called carriers. Carriers may have no family history of the condition and are often not aware that they have a genetic change that could be passed to their children. These types of conditions include cystic fibrosis, sickle cell anemia, and spinal muscular atrophy.
Ideally a patient would be offered this screening prior to becoming pregnant, but it is often offered early in a pregnancy. If a patient is found to be a carrier for a recessive genetic condition, their partner then has the option to pursue testing to better understand risks to a pregnancy. Based on results from this type of screening, the patient or couple can be counseled on the risk of having a baby with the genetic conditions they were screened for and any potential options for prenatal or postnatal diagnosis which can then be used to make further decisions. The results from these types of tests will not change from pregnancy to pregnancy for a given couple.
During a pregnancy patients are also typically offered screening for common chromosome abnormalities, including Down syndrome, Trisomy 13, and Trisomy 18. If a patient receives a result indicating that the pregnancy is at an increased risk for one of these conditions, she will be offered counseling to further discuss the risk as well as prenatal diagnosis options, which can include a chorionic villus sampling or amniocentesis depending on gestational age. These tests are invasive and always optional. They do carry small risks for pregnancy loss. If results from a prenatal diagnostic test indicate the diagnosis of a genetic condition, then that information can be used to help a patient or couple make decisions moving forward. Screening for chromosome abnormalities is offered to patients during every pregnancy they have.
If a patient or couple is pursuing pregnancy via in vitro fertilization, embryos can be tested for conditions that the particular patient or couple are at risk to pass on as well as common chromosome abnormalities before choosing which embryos are selected for implantation. Certain screening tests and prenatal diagnostic tests may still be offered during these pregnancies.
Most of the time, prenatal screening tests are offered to patients by their OB-GYN, and patients are only referred to a maternal fetal medicine specialist and/or genetic counselor once an abnormal result has been received. Certain patients who are considered to be at an increased risk to have a baby with a particular type of genetic condition may be referred to a specialist and/or counselor to discuss testing options in general. An example would be women 35 and older who have a higher risk to have a baby with a chromosome abnormality.
Improvements in DNA sequencing technology have allowed carrier screens to increase analytical sensitivity for detecting carriers and have given patients the option of testing for hundreds of conditions with one test. Labs are continuing to add conditions to their carrier screening panels.
Screening tests for chromosome abnormalities now include a cell-free DNA prenatal screening option that has increased analytical sensitivity, can be offered as early as 10 weeks in a pregnancy, and can also provide patients with information on sex chromosome abnormalities (which means a patient could find out the sex of a baby before it would be apparent on an ultrasound). Labs offering this option are working towards the inclusion of screening for more types of chromosome abnormalities or other types of genetic conditions.
BL: As with any new technology, there are promises and perils. What are the benefits and risks, or blessings and temptations, associated with prenatal genetic tests?
Merideth: Carrier screens and chromosome abnormality screens are increasingly able to give patients more and more information. Genetic counseling can help patients or couples weigh the pros and cons of having no prenatal genetic testing, basic prenatal genetic testing, or a large amount of information from extensive prenatal genetic testing. If a patient or couple are in a higher risk category for a pregnancy with a particular type of genetic condition, their health care provider may recommend that they have certain tests so that the pregnancy can be monitored appropriately. And, it’s possible that a health care provider may recommend a particular test based on an ultrasound finding.
More information can be empowering, but more information in a prenatal setting can lead to more decisions for a patient to face during a pregnancy. Patients who opt for more rather than less information from a carrier screen increase the likelihood that they will be identified as a carrier for at least one condition. Some carrier screening panels include conditions that are not associated with intellectual disability or a shortened life span. Patients may still be surprised by a difficult-to-interpret result even if they have received prior genetic counseling explaining possible test outcomes.
When it comes to screening for chromosome abnormalities, patients who opt to move forward with a cell free DNA test may be so focused on finding out the sex of their baby early in the pregnancy that they forget they will also be given news about risk for an abnormality with those results. Labs may also have to return difficult to interpret or inconclusive results with this type of screening as well.
While no patient or couple can truly know what they would consider or ultimately decide to do until faced with a real decision instead of a hypothetical one, genetic counselors can help patients and couples make decisions regarding certain tests based on the patient’s or couple’s values and goals for a pregnancy as well as any cultural or religious beliefs. And it is the job of the genetic counselor or any other health care professional involved in the decision-making process to present a patient or couple with all of their options regardless of the professional’s personal values and religious beliefs.
BL: Are most genetic tests covered by insurance? What about genetic counseling? Are you concerned about equity?
Merideth: Genetic counseling performed by certified genetic counselors or other health care professionals is typically covered by insurance, and for the most part when a genetic test is indicated for a patient, there is good insurance coverage. Many medical professional societies and clinical laboratories work with insurance companies to guide their development of criteria used to determine coverage for various types of genetic tests. However, there are always exceptions. Genetic counselors and other health care professionals may need to write letters of medical necessity or participate in peer-to-peer reviews to argue for coverage of certain tests. If those methods are unsuccessful, we can help direct patients towards health care systems, nonprofit organizations, or clinical laboratories that offer financial assistance to patients who may benefit from a genetic test if they are unable to afford the test.
Equity is still a concern when it comes to genetic counseling and genetic testing, though. While the field has grown, many clinical genetic counselors are still concentrated in larger cities and academic institutions and there can still be significant differences in insurance coverage between payers and states. Telemedicine options are increasing access to services across the US, and genetic counselors are currently working to improve access to genetic counseling through the introduction of a bill in the US House of Representatives which would authorize the Centers for Medicare and Medicaid Services to recognize certified genetic counselors as health care providers. Unfortunately, genetics services are still more likely to be accessed by patients who have had education on their existence and who have the ability to advocate for themselves in the health care system.
BL: With the development of CRISPR-Cas9 and other methods, we’re now in an age where we can not only read the genome, but change the genome. Are genetic counselors starting to address somatic-cell gene editing and/or embryonic gene editing?
The National Society of Genetic Counselors (NSGC) and the American Society of Human Genetics (ASHG) have issued statements on human germline editing. While the NSGC recognizes the potential of editing techniques to prevent, improve, or cure genetic disease and is supportive of public funding for appropriately regulated, transparent, and equitable research, the NSGC does not support the clinical use of germline editing at this time.
Similarly, the ASHG supports research and public funding for research with appropriate oversight on human embryos and gametes but does not currently support editing that would result in human pregnancy. At a minimum, the ASHG recommends “a compelling medical rationale, an evidence base that supports its clinical use, an ethical justification, and a transparent public process to solicit and incorporate stakeholder input” before any future clinical application of human germline genome editing.1
BL: Who should consider a career in genetic counseling?
Merideth: With the seemingly ever expanding opportunities for genetic counselors, the career can be a good fit for students of varied interests. Clearly a strong interest in medical genetics and a desire to educate others on genetic concepts, both inside and outside of the healthcare system, is important if considering entering the field. Graduates from genetic counseling programs don’t have to pursue a career where they have direct patient interaction, but a large component of training involves clinicals in various specialties and learning and practicing psychosocial counseling techniques. I encourage anyone interested in learning more about the field of genetic counseling to reach out to a genetic counselor to discuss the profession or ask about shadowing opportunities. You can find genetic counselors open to contact through the NSGC website.