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Date of Release: July 1, 2015

Expiration Date: May 31, 2018

Estimate Time of Completion: Maximum of 22 hours

Course Description & Course Format

The ACMG Genetics and Genomics Review Course offers a 3 day format that provides an intense learning with exam preparation lectures that cover a broad range of genetic and genomic topics presented by recognized experts in the field. Topics include:

The Course will feature a pre-course practice examination, exam preparation and exam taking tips.

Course Objectives

At the conclusion of this activity, participants should be able to:

Course Objectives approved by the NSGC for Genetic Counselors

At the conclusion of this activity, participants should be able to:

Target Audience

This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics.


Course Directors

Bruce R. Korf, MD, PhD, FACMG
Wayne H. and Sara Crews Finley Chair in Medical Genetics
Professor and Chair, Department of Genetics
Director, Heflin Center for Genomic Sciences
University of Alabama at Birmingham
1720 2nd Ave. S., Kaul 230
Birmingham, AL 35294
Tel: (205) 934-9411
Fax: (205) 934-9488
John A. Phillips, III, MD, FACMG
David T. Karzon Professor of Pediatrics
Professor of Pathology, Microbiology and Immunology and Professor of Medicine
Director, Division of Medical Genetics & Genomic Medicine
Vanderbilt University School of Medicine
DD-2205 Medical Center North
Nashville, TN 37232-2578
Tel: (615) 322-7602
Fax: (615) 343-0959


Pamela L. Flodman, MSc, MS, LCGC
Adjunct Professor, Pediatrics
School of Medicine
Director, Graduate Program in Genetic Counseling
Department of Pediatrics
University of California, Irvine
101 The City Drive
Mail Code: 4482
Orange, CA 92868
Tel: (714) 456-5789
Fax: (714) 456-5330
Madhuri Hegde, PhD, FACMG
Associate Professor
Emory Genetics Lab Scientific Director
Sr. Director, Emory Genetics Lab, Molecular Lab
Department of Human Genetics
Emory University School of Medicine
2165 North Decatur Road
Decatur, GA 30033
Tel: (404) 727-5624
Fax: (404) 727-3949
Gary S. Gottesman, MD, FACMG
Medical Geneticist
Center for Metabolic Bone Disease
Shriners Hospitals for Children - St. Louis
2001 S. Lindbergh Blvd.
St. Louis, MO 63131
Tel: (314) 872-8305
Fax: (314) 872-7844
Gail E. Herman, MD, PhD, FACMG
Professor, Center for Molecular and Human Genetics
The Research Institute at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University
700 Children's Dr, Room W403
Columbus, OH 43205-2696
Tel: (614) 722-3483
Fax: (614) 722-2817
Christa Lese Martin, PhD, FACMG
Autism & Developmental Medicine Institute
Geisinger Health System
120 Hamm drive, suite 2A, M.C. 60-36
Lewisburg, PA 17837
Tel: (570) 522-9427
Fax: (570) 522-9431
Louise E. Wilkins-Haug, MD, PhD, FACMG
Division Director, Maternal Fetal Medicine and Reproductive Genetics
Brigham & Women's Hospital
Professor, Obstetrics/Gynecology
Harvard Medical School
75 Francis Street
Boston, MA 02115
Tel: (617) 732-4208
Fax: (617) 264-6310
Sharon E. Plon, MD, PhD, FACMG
Professor, Pediatrics/Hematology-Oncology
Professor, Molecular and Human Genetics
Human Genome Sequencing Center
Director, Medical Scientist Training Program
Department of Pediatrics
Baylor College of Medicine
Feigin Center Room 1200.18
1102 Bates Street
Houston, TX 77030
Tel: (832) 824-4251
Fax: (832) 825-4276
Tony Wynshaw-Boris, MD, PhD, FACMG
James H. Jewell Professor of Genetics
Chair, Department of Genetics and Genome Sciences
Case Western Reserve University, School of Medicine
University Hospitals Case Medical Center
One 10900 Euclid Avenue, BRB731
Cleveland, OH 44106-4955
Tel: (216) 368-0581
FAX: (216) 368-3832


Miriam G. Blitzer, PhD, FACMG
Executive Director
American Board of Medical Genetics and Genomics
9650 Rockville Pike
Bethesda, MD 20814-3998
Tel: (410) 706-1429
Fax: (410) 706-6105
Amy E. Roberts, MD, FACMG
Director, Clinical Cardiovascular Genetics Research Program
Boston Childrenís Hospital
Department of Cardiology
Farley 2
300 Longwood Ave.
Boston, MA 02115
Tel: (617) 355-8794
Fax: (617) 739-6282


As a sponsor accredited by the ACCME, the American College of Medical Genetics and Genomics must ensure balance, independence, objectivity and scientific rigor in all its sponsored educational activities. All facultyparticipating in a CME-certified activity are expected to disclose to the audience any significant financial interest or other relationship with the manufacturer(s) of any commercial product(s), provider(s) of commercial services or any commercial supporters, including diagnostic laboratories, of the activity discussed in an educational presentation. Significant financial interest or other relationship can include such things as grants or research support, consultancy, major stock holder, etc. The intent of this disclosure is not to prevent a speaker with a significant financial or other relationship from making a presentation, but rather to provide listeners with information on which they can make their own judgments. It remains for the audience to determine whether the speaker's interests or relationships may influence the presentation with regard to exposition or conclusion.

The following faculty members have disclosures:

Bruce R. Korf, MD, PhD, FACMG
Dr. Korf receives grant/research support from Novartis, NIH, and the Department of Defense. He receives royalties/honoraria from Wiley and Elsevier. He is a consultant for Illumina and Accolade.

Christa Lese Martin, PhD, FACMG
Dr. Martin receives grant/research support from NIH and the Simons Foundation. She is employed by Geisinger Health System.

John A. Phillips, III, MD, FACMG is the Principal Investigator for Clinical Trials for enzyme substitution for PKU and CNP treatment of Achondroplasia from BioMarin Pharmaceutical Inc. Dr. Phillips will discuss a non FDA-approved investigation product: PEG-PAL for PKU.

Sharon Plon, MD, PhD, FACMG
Dr. Plon is an employee of Baylor College of Medicine (BCM) which derives revenue from genetic testing, including whole exome sequencing, offered in the Whole Genome Laboratory and Medical Genetics Laboratories. BCM and Miraca Holdings Inc. have agreed on a joint venture with shared ownership and governance of the clinical genetics diagnostic laboratories. Dr. Plon will also discuss off-label use of drug target tumors.

The following faculty members have nothing to disclose:

Pamela L. Flodman, MSc, MS, LCGC
Gary S. Gottesman, MD, FAAP, FACMG
Madhuri Hegde, PhD, FACMG
Gail E. Herman, MD, PhD, FACMG
Louise E. Wilkins-Haug, MD, PhD, FACMG
Anthony J. Wynshaw-Boris, MD, PhD, FACMG
Amy E. Roberts, MD, FACMG
Miriam G. Blitzer, PhD, FACMG

ACMG Staff have nothing to disclose:

Jane Dahlroth, CEM, CMP-HC
Penelope Freire, CMP
Melissa T. Forburger, CAE
Jane Radford, MHA, CHCP
Michael S. Watson, PhD, FACMG


The ACMG supports medical information privacy. While the ACMG is not a "covered entity" under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.

Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:

Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
    1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
    2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.
  2. Activities that fall outside the definition of CME/CE; "Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession" (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.
  3. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality. If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.

Continuing Medical Education Credit

This activity has been planned and implemented by the American College of Medical Genetics and Genomics in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education.


The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

CME Credit Designation

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 22.5 AMA PRA Category 1 Credits. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Genetic Counselor CEUs:

The National Society of Genetic Counselors (NSGC) has authorized the American College of Medical Genetics and Genomics to offer up to 2.20 CEUs or 22.00 Category 1 contact hours for the event: 2015 ACMG Genetics and Genomics Review Course. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of certification and recertification.

Continuing Education Units (Clinical Laboratory Scientists, Directors, and Personnel)

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program. The College designates the 2015 ACMG Genetics and Genomics Review Course for a maximum 22.5 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider # 50-11878.

ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.® Program as CE Provider # 0001.

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Requesting Credit for the Activity - There is a credit certificates fee of $30.
To request credit, you must:
a) Answer pre-test questions (if applicable)
b) Read all text and view all slide and video presentations for which you wish to receive credit
c) Answer the post-test questions. After you have answered all the questions and passed a claim creditbutton will appear on this page if you have achieved a passing score. If you did not achieve a passing score, please review the session and retake the test.

Disclaimer: ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.


Click here to access the practice exam

Very important – you Must take the practice exam in one sitting as you Cannot save your spot and reaccess the exam. So be sure to set aside some uninterrupted time to respond to 25 test questions.

Practice Exam

1. A woman has a son with an X-linked recessive lethal disorder, and her maternal half-brother had the same X-linked recessive lethal disorder. There is no other family history of the condition. Her daughter has one healthy son. What is the daughter's chance to be a carrier?

2. You evaluate a 6-day-old term girl in the emergency room with an unremarkable prenatal and family history. She was discharged home at 2 days of age on regular infant formula. For 24 hours she has been eating poorly (<1 ounce per feed) and seems "sleepy." She has vomited once. Her CBC is normal, her electrolytes show a metabolic acidosis and the ammonia level is 500 mg/dl. Which of the following metabolic laboratory results are you the most likely to find?

3. Genome-wide chromosomal microarray analysis (CMA) detects losses and gains across the genome. Various methods have been developed for CMA, including the use of arrays that contain single nucleotide polymorphism (SNP) probes. Which of the following test characteristics represents an advantage for detecting genetic abnormalities by using an array that contains SNP probes, compared to an array that contains only copy number detection probes?

4. You are adjusting the cutoffs for a Newborn Screening (NBS) test for a metabolic condition. Your adjustments increase the number of true positive results and reduce the number of false positive results. Both of these changes will increase which of the following NBS test parameters?

5. A young child has recently been diagnosed as having cystic fibrosis and is found to have one G551D allele. Which of the following medications might be appropriate to offer as a treatment?

6. A four-year-old girl presents to the emergency room with rectal bleeding and rectal prolapse. The gastroenterologist removes a bleeding polyp and stabilizes the patient. A geneticist evaluates the patient and recommends genetic testing for a next generation panel test for polyposis/GI cancer genes. Which of the following gene tests is most likely to be positive given the child's clinical presentation?

7. You are scheduled to see a woman whose family history is consistent with inheritance of an autosomal dominant RB1 mutation with reduced penetrance. Your patient's brother, maternal uncle, and maternal grandmother all had bilateral retinoblastoma. However, your patient and her mother have both had a normal ophthalmologic exam. Review of the literature reveals that RB1 mutations with 90% penetrance have been documented. If an RB1 mutation with 90% penetrance is segregating in this family, what is the chance for your patientís offspring to inherit the RB1 mutation?

8. A 4-year-old girl has sparse hair, abnormal teeth, and absence of sweating. Which of the following genes is most likely to be responsible for this disorder?

9. Mrs Smith is a 40-year-old G2 P1 at 18-week gestation, with an ultrasound report indicating a neural tube defect was found in the fetus. She had a 12 week cell free fetal DNA (cffDNA) study which was "normal' for chromosomes 13, 18, 21 and X, Y. She remains concerned about the fetus so she decides to proceed with an amniocentesis. Which of the following findings is most likely from her amniocentesis?

10. You provide a clinical description of a patient to the molecular cytogeneticist at your facility including: a prominent nasal root, bulbous nasal tip, hypocalcemia, immunodeficiency, and conotruncal heart abnormality. Which of the following laboratory techniques is best used to confirm the suspected diagnosis in this patient?

11. An 8-year-old boy and his family recently moved to the United States from Russia. His parents report their son has a genetic disorder and needs a special diet. Newborn screening was never performed. On physical examination you note macrocephaly and choreoathetotic movements. Height and weight are 25-30th centile for age. The parents note he has some mild cognitive deficits, but attended regular school in Russia. Which of the following metabolic disorders is the most likely diagnosis?

12. A woman has retinitis pigmentosa (RP) and is found to be heterozygous for two unlinked genes, each of which has been implicated in RP. Her partner does not have RP and is unrelated. The chance for a child of this couple to have RP is?

13. Your laboratory offers chromosomal microarray testing and you were asked to test an individual who has a known cytogenetic abnormality, which was detected by G-banding, to further define the abnormality. Which of the following karyotypes represents an individual who would not benefit from this additional characterization by microarray analysis?

14. Based on the clinical presentation and nuclear study, a diagnosis of Hereditary Paraganglioma-Pheochromocytoma syndrome was considered in a 36-year-old woman. The eight exons of the succinate dehydrogenase complex, subunit B (SDHB) gene were sequenced and the variant c.434 C>T (p.R115X) was detected in the fourth exon of this gene. What is the most likely outcome of the mRNA transcribed from this allele?

15. A 34-year-old woman was recently diagnosed with breast cancer and comes for a consultation. Which of the following options describes the most appropriate use of the current models and guidelines?

16. A nasal sample was sent on a patient that was seen in clinic who you suspect has a problem with ciliary function. The results found abnormalities in the dynein arms of the cilia. Which of the following diagnoses is most consistent with this finding?

17. In your obstetric practice, you obtain a detailed second trimester fetal ultrasound survey to assess for the risk of Down syndrome. Which of the following ultrasound findings would have the highest relative risk for trisomy 21?

18. As you evaluate a 4-day-old boy with a blood sugar of 37, an anion gap of 21, 4+ urinary ketones and an ammonia level of 197, the State Newborn Screening (NBS) Lab contacts you to report an emergency NBS result. The emergency result is most likely to reveal an increase in which of the following levels?

19. A case-control study shows that an allele is present in 20% of controls and 40% of affected individuals. What is the odds ratio of an allele carrier having the disease compared with a non-carrier?

20. You see a 4-year-old boy and his parents for a follow-up visit in genetics clinic. He was initially referred from craniofacial clinic for a sub-mucous cleft, delayed speech, a ventricular septal defect, and characteristic facial features. The parents were told these features may be consistent with a deletion of chromosome 22q11.2, and the syndrome was briefly described. The chromosomal microarray analysis you obtained following his initial visit revealed a 22q11.2 deletion and the family comes to discuss the results. After disclosing the confirmation of the diagnosis to the parents, which of the following actions is the most appropriate next step?

21. Known pathogenic variants are found in a variety of genetic databases available electronically through the internet. In searching for the implications of a de novo variant found on exome sequencing of a patient with unexplained developmental delay and dysmorphic features you find the exact same variant reported in the Human Genetic Mutation Database (HGMD) associated with a milder phenotype. However, a search of the Online Mendelian Inheritance in Man (OMIM) database and LOVD (Locus Specific database) does not confirm this relationship. Which of the following is the best explanation for the differences in the information available in these databases?

22. A couple, who had a previous child with classic Hurler syndrome who died of disease complications, comes to you for pre-conception counseling. Each parent has been molecularly confirmed to carry a known pathogenic mutation. Which of the following interventions will likely provide the best outcome for a future affected pregnancy?

23. A 10-year-old boy presents with distal muscle weakness and atrophy associated with mild glove and stocking sensory loss, depressed reflexes, and pes cavus. Array CGH analysis demonstrates an abnormality in chromosome 17 at band p12 shown in the plot below. What is the diagnosis of this patient?

24. A 3-year-old boy from Southeast Asia has a seizure disorder and it is determined that he should be treated with carbamazepine. Before starting this medication, which of the following genes should be checked for pharmacogenetic polymorphisms?

25. A couple who are first cousins ask about their risk of having a child with a rare autosomal recessive disorder that affected the sister of their common grandmother. The grandmother was not affected by this condition that exhibits complete penetrance. What is the risk to their child?

$650 - ACMG MEMBERS: To qualify for the membership rate, ACMG membership must be active Pending ACMG members must pay the non-member fee.

  • MD, PhD, Laboratory Director, DO
  • Genetic Counselor/Nurse, Dietitian, Physician Assistant, Laboratory Technologist/Technician
  • Trainee/Resident
  • Student (Medical School, Graduate School or Undergraduate Levels)


  • MD, PhD, Laboratory Director, DO
  • Genetic Counselor/Nurse, Dietitian, Physician Assistant, Laboratory Technologist/Technician
  • Trainee/Resident
  • Student (Medical School, Graduate School or Undergraduate Levels)

$30 - fee for credit

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  ACMG MEMBERS Continuing Education Credit   $680 USD
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