This article is part of a series by ABGC designed to provide recommendations for additional resources and topics to prepare for the CGC exam. This article covers one exam content category and is meant to provide suggestions based on one genetic counselor’s exam preparation experience. Please note that these are suggestions only and are not meant as an exhaustive guide or exclusive study resource.
Preparing for the board exam can feel daunting, especially if you are sitting for the exam right after graduation. In addition to graduating last spring, I was also juggling a cross-country move, a spouse starting a medical residency, and raising a 2-year-old and a newborn. I wasn’t sure if I had the bandwidth to study for such an important exam. Others may be making similar moves or adjusting to a new job as they study; I want you to know you are not alone.
I found that first and foremost, making a study plan and setting study goals helps to make it much more manageable. Look through the exam content outline, make a list of your strongest and weakest topics, and prioritize your study time. Read through other articles in this series to find resources that may help you create a more personalized study plan. In this article, I will specifically discuss Domain 1A.
Three Concepts That Supported My Domain 1A Study
1. Understanding “the Why”
I find it easier to remember a lot of information if I can connect it together. One way to apply this to the board exam is to ask yourself, “Why is this clinical information important to know for this condition?” Your clinical experience comes in handy here. Think about why you take a medical and a family history. Really understanding the relevance of certain questions and what information they provide about the condition can help connect facts about conditions to real world scenarios. Knowing what information is important to create a differential and provide a risk assessment can help you make connections between conditions with relevant clinical information. Don’t forget to include the impact of exposures and other non-genetic factors as contributors to the clinical presentation.
GeneReviews contains a host of information and is an essential resource as you study for the exam. GeneReviews itself can seem overwhelming because of the depth and breadth of information on each condition. While it may seem like reading the entirety of each entry is excessive, this is one of the most robust sources of information on genetic conditions and is well worth the time you will spend reading. Prioritizing which genetic conditions to study can help to make it more manageable. Conditions discussed during your graduate program and those seen regularly in clinic settings are more likely to be high-yield topics on the exam. Spend more time with GeneReviews for those conditions.
GeneReviews is especially helpful when preparing for Domain 1A as it contains relevant clinical information for each condition, as well as general management guidelines and differential diagnoses. For each genetic condition on GeneReviews, there is a summary section at the top with subsections on clinical characteristics, diagnosis/testing, management, and genetic counseling. I always read this section first to provide an overview and refresher of the condition, then decide which specific sections to focus on based on my level of familiarity with the condition.
As a genetic counselor, it is important to be familiar with both the diagnostic criteria and clinical characteristics of a condition. Many syndromes will have clinical diagnostic criteria that can establish the diagnosis in a patient independent of molecular testing. For this information, look in the “Establishing the Diagnosis” section on GeneReviews. It is also very helpful to understand the natural history of each condition. Understanding the natural history will help you better answer clinical management and urgency of referral questions on the exam. For example, a pediatric patient would not need an urgent referral for a clinical feature that usually does not present until adulthood (assuming, of course, the feature is not currently present). When studying for this part of the exam, you could read through the “Clinical Characteristics” section and create your own timeline in a notebook to visualize the natural history of that condition.
Always read through the “Differential Diagnosis” section of each GeneReviews page. This is a great place to study differences and similarities between conditions and how they may overlap. Consider creating your own Venn diagrams, tables, or lists as you think about differential diagnoses for different indications. Pick a single presenting feature, such as café-au-lait macules, and list all the possible conditions related to that feature. And don’t forget that isolated findings and non-genetic causes are often part of that differential!
3. Exploring Other Resources for Domain 1A
For a great overview of pregnancy-related issues, check out Chapter 2 of Foundations of Perinatal Genetic Counseling (Mathiesen & Roy, 2018). This chapter also includes family and medical history considerations for pregnant patients. Mother to Baby has a lot of great fact sheets on teratogens. A previous article in this series, “Studying for the Genetic Counseling Board Exam: A Look at Prenatal Study Resources,” has more information on teratogens and other prenatal non-genetic risk factors as well.
For non-genetic risk factors related to cancer development, Counseling About Cancer (Schneider, 2012) is a good place to start. It can also be helpful to become familiar with different cancer risk models and the non-genetic factors they incorporate as part of their risk assessment. Chapter 28 “Environmental Hazards” in Harper’s Practical Genetic Counseling (Clarke, 2020) is an additional source of helpful information.
Lastly, don’t forget about all the great resources you gained from your graduate program and clinical rotations sites and supervisors! These resources can prove to be valuable study tools.
Studying for the ABGC Board Exam can seem like an enormous task. Before you start, take a step back and make a plan. Create a schedule for yourself, including your goals by domain and topic. Use the ABGC articles to help find resources and create your own plan. One of the best pieces of advice I received when studying is that half of the battle is a mental game. Keep yourself focused, tell yourself you’ve got this, and don’t let yourself get too discouraged when you run into a difficult question. You can do this!
References
Clarke, A. (2020). Harper’s Practical Genetic Counseling (8th ed.). Taylor & Francis Group.
GeneReviews. (2024). https://www.ncbi.nlm.nih.gov/books/NBK1116/
Mathiesen, A. & Roy, K. (2018). Foundations of Perinatal Genetic Counseling : A guide for counselors. Oxford University Press.
Schneider, K. A. (2012). Counseling about Cancer: Strategies for genetic counseling. John Wiley & Sons, Inc.
The Organization of Teratology Information Specialists. (2024). Fact Sheets. MotherToBaby. https://mothertobaby.org/fact-sheets/