2. Learning Objectives
By the end of this session, attendees will be able to:
• List some states that are underserved where genetics work is
more likely to fall to PCPs to make up for the gap.
• Describe how PCPs can play a more active role in selected
genetic situations.
• Identify educational opportunities to increase the workforce
in Genetics.
2
3. Medical Geneticists and
Genetic Counselors
• Medical Geneticist: a physician who has completed
initial primary medical training in another area of
medicine and who subsequently completed at least
two years of additional formal subspecialty training
in clinical genetics.
4. Medical Geneticists and
Genetic Counselors
• Genetic Counselor: A Master’s degree trained health
care professional who combines a knowledge of basic
science, medical genetics, epidemiological principles,
and counseling theory with skills in genetic risk
assessment, education, interpersonal communication
and counseling to provide services to clients and their
families for a diverse set of genetic or genomic
indications.
6. Workforce: Geneticists
• ACMG Workforce Survey, 2019
– Genetic counselors = 4700 (7/500,000)
– Medical geneticists = 1240 (2/500,000)
• Number of practicing geneticists?
• Ideal size of a Genetics workforce?
7. ACMG Survey (2019)
• Age of respondents (n=990)
– Mean = 53 yr +/- 13
– Median = 53 yr (29-91)
• Retirement plans (n=990):
– 5% already retired
– 12% in 1-5 years
– 11% in 6-10 years
• Predicted shortage
– # of respondents > 60 years old
– # who may retire within 10 years
8. Clinical Geneticist Job Vacancies
0
20
40
60
80
100
120
140
1 2 3 4
#
of
individuals
Number of vacancies
14. Workforce: Genetic Counselors
• Genetic counselors:
• In 2021 the National Society of Genetic
Counselors (NSGC) stated that there was not a
workforce shortage of genetic counselors.
• As of 4/21/21 there were 5,629 certified genetic
counselors (CGC) growing from 1,155 in 1999.
• The profession had grown by 100% since 2010.
15. Genetic Counseling Workforce
• It is expected in the next 10 years that the
profession will see similar consistent growth
as additional training programs are accredited
and additional training slots are added to
existing programs.
17. Genetic Counseling Workforce
• In 2021 there was over 1 CGC per 75,000
population.
• Excluding nonclinical CGCs, there was about 1
clinical CGC per 100,000 population.
• However, many nonclinical CGCs do have some
interaction with patients, or provide genetics support
to physicians and other healthcare providers.
18. Access to Genetic Counselors
• In 2021 it was reported that approximately 50% of
clinical CGCs have an appointment available within
a week.
• Close to 90% of CGCs specializing in oncology
reported that they can see a stat patient within 3
days, most on the same day. i
19. Access to Genetic Counselors
• In some areas of the country or at specific
institutions there are issues in accessing CGCs for
face-to-face appointments.
• However, there are other options to lower wait
times for genetic counseling services such as
telehealth or going to other institutions.
20. Access to Genetic Counselors
• Pending federal legislation, the Access to Genetic
Counselor Services Act, would provide Medicare
Medicare recognition of CGCs and CMS
reimbursement.
• State licensure can also improve access to genetic
counselor services.
22. Cancer Genetics
• Today, genetic testing is becoming more accessible
for patients as the list of clinical indications and
number of genes are growing, and the cost of testing
is decreasing.
• There are many healthcare providers who participate
in the delivery of cancer risk assessment and testing.
23. PCPs
• The importance of identifying a patient with an
underlying genetic variant associated with cancer is
that it can impact his or her treatment options, long-
term management approach, and risks for other forms
of cancer.
• In addition, there are implications for close family
members.
• Many patients expect PCPs to play a role in risk
identification and genetics referral.
• The potential PCP role in cancer genetics is quite
broad.
24. Genetic Red Flags
Family history of multiple affected relatives
Condition in the less often affected sex
Earlier age at onset of disease than expected
Disease in the absence of known risk factors
Multiple primary tumors in the same person
Bilateral disease
Non-cancer findings suggestive of a syndrome
Ethnic predisposition
Consanguinity
26. Lynch syndrome
• Also known as hereditary non-polyposis colorectal cancer
(HNPCC)
• Most common cause of hereditary colorectal cancer.
• Due to genes that affect DNA mismatch repair, a process that
fixes mistakes made when DNA is copied.
• These genes (MLH1, MSH2, MSH6, PMS2, and EPCAM)
normally protect you from getting certain cancers, but some
mutations in these genes prevent them from working properly.
27. Lynch syndrome
• More likely to get colorectal cancer and other cancers,
and at a younger age (before 50), including
• Uterine (endometrial),
• Stomach,
• Liver,
• Kidney,
• Brain, and
• Certain types of skin cancers.
• Lynch syndrome causes about 4,200 colorectal cancers
and 1,800 uterine (endometrial) cancers per year.
28.
29. Results
• Positive for a pathogenic variant
• Negative for a pathogenic variant
• Presence of a variant of uncertain significance
30. Variant of
Uncertain
Significance
(VUS)
Seen in affected and not affected
These are single nucleotide DNA
polymorphisms that are neither
confirmed benign nor pathogenic
Rates are going down and there
are ACMG guidelines and lab data
available
31. VUSs
• More are found in individuals
with non-European ancestry who
have been historically
underrepresented in genomic
research.
• The classification of a variant
– benign, uncertain, or
pathogenic – can change over
time as labs generate more data
about specific variants.
• In some cases, a VUS may be
reclassified as "actionable" as
new data is obtained.
40. Abnormal NBS Protocol
• NBS Lab alerts the PCP office
– Repeat specimen
– Referral to a specialist
• PCP office:
– Contacts the family
– Facilitates the referral
– Interacts with the specialist – roles determined
– Supports the family
41. Abnormal NBS Protocol
• NBS Lab alerts the PCP office
– Repeat specimen
– Referral to a specialist
• PCP office:
– Contacts the family
– Facilitates the referral
– Interacts with the specialist – roles determined
– Supports the family
• Triages the patient
• Initiates testing
• Initiates counseling
42. Abnormal NBS Protocol
• NBS Lab alerts the PCP office
– Repeat specimen
– Referral to a specialist
• PCP office:
– Contacts the family
– Facilitates the referral
– Interacts with the specialist – roles determined
– Supports the family
• Triages the patient
• Initiates testing
• Initiates counseling
• WITH THE SUPPORT OF A
SKILLED CO-PROVIDER
43. Triage
• Counseling for abnormal newborn screens
should always be done ASAP
• Management can be:
– Emergent
– Urgent
– Not urgent
44. Propionic acidemia
Methylmalonic acidemia (mutase)
MMA (cobalamin defects)
Isovaleric acidemia
3-MCC deficiency
HMG CoA lyase deficiency
Biotinidase deficiency
Holocarboxylase synthetase def’y
β-ketothiolase deficiency
Glutaric acidemia type I
PKU
Maple syrup urine disease
Homocystinuria
Tyrosinemia type I
Argininosuccinic aciduria
Citrullinemia type I
Guanidinoacetate
methyltransferase def’y
Carnitine update defect
MCAD deficiency
VLCAD deficiency
LCHAD deficiency
TFP deficiency
Pompe disease
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
X-linked adrenoleukodystrophy
Galactosemia
Congenital hypothyroidism Critical congenital cyanotic heart disease
Congenital adrenal hyperplasia Cystic fibrosis
Hemoglobinopathies Spinal muscular atrophy
Severe combined immunodeficiency Hearing loss
Other disorders
AMINOACIDOPATHIES ORGANIC ACIDEMIAS FATTY ACID OXIDATION DEFECTS
GALACTOSE DISORDERS
OTHER METABOLIC DISORDERS
Triage – Emergent vs Urgent/Non-urgent
45. Propionic acidemia
Methylmalonic acidemia (mutase)
MMA (cobalamin defects)
Isovaleric acidemia
3-MCC deficiency
HMG CoA lyase deficiency
Biotinidase deficiency
Holocarboxylase synthetase def’y
β-ketothiolase deficiency
Glutaric acidemia type I
PKU
Maple syrup urine disease
Homocystinuria
Tyrosinemia type I
Argininosuccinic aciduria
Citrullinemia type I
Guanidinoacetate
methyltransferase def’y
Carnitine update defect
MCAD deficiency
VLCAD deficiency
LCHAD deficiency
TFP deficiency
Pompe disease
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
X-linked adrenoleukodystrophy
Galactosemia
Congenital hypothyroidism Critical congenital cyanotic heart disease
Congenital adrenal hyperplasia Cystic fibrosis
Hemoglobinopathies Spinal muscular atrophy
Severe combined immunodeficiency Hearing loss
Other disorders
AMINOACIDOPATHIES ORGANIC ACIDEMIAS FATTY ACID OXIDATION DEFECTS
GALACTOSE DISORDERS
OTHER METABOLIC DISORDERS
Triage – Emergent vs Urgent/Non-urgent
54. An Understanding…
• All emergent disease concerns referral to a
specialist
• All non-emergent diseases with unusual
concerns referral to a specialist
• A team of skilled co-providers (genetic
counselors?) - thoroughly trained and available
for PCP assistance and guidance
56. Educational Opportunities
• Geneticists:
– Two-years of training
– Combined training with other specialty training
– Possibility in the future of loan repayment
programs for Genetics and/or Metabolism
57. Educational Opportunities
• To become a genetic counselor, you must first
– earn a minimum of a bachelor's degree: often in the
sciences, such as biology, chemistry, molecular biology in
psychology or sociology.
• Degree Required: Master’s degree Genetic Counseling average
of 21 months, study genetics, psychology, counseling and
sociology
• Certification: Certified Genetic Counselor (CGC) designation
by ABGC after passing the board exam which is offered two
times a year.
• Job Growth (2014-2024): 29%*
• Licensure: Many states including Connecticut and
Massachusetts have licensure
58. Employment in Clinical Settings
• Prenatal and pre-conception – for women and their partners who are
pregnant or thinking about becoming pregnant
• Pediatric – for children with genetic, or suspected genetic, conditions and
their family members
• Cancer – for patients with cancer and/or their family members
• Cardiovascular – for patients with diseases of the heart or circulatory
system and/or their family members
• Neurology – for patients with diseases of the brain and nervous system
and/or their family members
• Assisted reproductive technology / infertility – for couples struggling with
fertility or who are carriers of genetic diseases
• Psychiatric – for patients living with mental illness and/or their family
members
59. Employment in Non-clinical Settings
• Research, education, public health settings, and corporate environments.
• Examples of roles include:
Laboratory – Utilization management, provider and patient support,
variant classification, and reporting
Research – Coordinating research studies, patient recruitment, data
collection and interpretation, manuscript preparation and grant writing
Education – Professors, directors of genetic counseling training programs
Public health – Newborn screening programs, population screening
programs
• Non-profit – Patient support and advocacy organizations
• Corporate – Dedicated services for employees and their families
60. Resources and References
• To learn more about genetics/genetic disorders,
check out:
• New England Regional Genetics Network
(www.negenetics.org)
• Weitzman Institute/NERGN collaboration
(https://www.weitzmaninstitute.org/genetics/)
61. • www.nsgc.org/Policy-Research-and-Publications/Genetic-Counselor-Workforce
• American College of Obstetricians and Gynecologists (2019) Committee Opinion
#793: Hereditary Cancer Syndromes and Risk Assessment
• Jackson Laboratories Hereditary Cancer Modules
• The primary care physician role in cancer genetics: a qualitative study of patient
experience Fiona A Miller, June C Carroll, Brenda J Wilson, Jessica P
Bytautas, Judith Allanson, Mario Cappelli, Sonya de Laat, Fred Saibil
• Family Practice, Volume 27, Issue 5, October 2010, Pages 563–
569, https://doi.org/10.1093/fampra/cmq035
61
Resources and References
66. Question #3
A positive newborn screen for a possible urea
cycle disorder requires an emergent referral to a
specialist.
A. True
B. False
67. Question #3
A positive newborn screen for a possible urea
cycle disorder requires an emergent referral to a
specialist.
A. True
B. False
68. Question #4
A positive newborn screen for possible x-linked
adrenoleukodystrophy requires an emergent
referral to a specialist.
A. True
B. False
69. Question #4
A positive newborn screen for possible x-linked
adrenoleukodystrophy requires an emergent
referral to a specialist.
A. True
B. False
70. Question #5
A variant of uncertain significance is a
pathogenic variant.
A. True
B. False
71. Question #5
A variant of uncertain significance is a
pathogenic variant.
A. True
B. False
Notes de l'éditeur
Introduce red flags: Ashklenazi, 1st degree relative under 50
Triple negative ES, PR and HER2 (normal cell growth under the age of 60
Details:
Autosomal dominant inheritance
Affected individuals in every generation
Any child of an affected individual has a 50% chance of inheriting the trait; unaffected family members do not pass it to their children
Males and females equally likely to be affected (although there may be sex-limited expression, such as with ovarian cancer)
Some patients are quite concerned because they want to know do I have a mutation or not
Seen in affected and not