Genome Profiling Status
Rationale & Instructions
Direct-to-consumer (DTC)
genotyping1 and whole genome sequencing2 (WGS) are two types
of genetic tests that can provide information about a person’s genetic makeup,
ancestry, health risks, and traits. Genotyping is a cheaper and faster method
that analyzes specific variations in a person’s DNA, such as single nucleotide
polymorphisms (SNPs), that are associated with certain diseases or
characteristics. WGS is a more comprehensive and expensive method that
sequences the entire DNA of a person, covering all 3.2 billion base pairs of
the human genome. WGS can detect more types of genetic variations, such as
insertions, deletions, copy number variations, and structural rearrangements,
that are not captured by genotyping.
Both DTC genotyping and
WGS can be useful tools3,4 for improving health outcomes, as they
can help identify genetic factors that influence a person’s susceptibility to
various conditions, such as cancer, cardiovascular disease, diabetes,
Alzheimer’s disease, and rare disorders. However, these tests also have
limitations and challenges, such as accuracy, interpretation, privacy, and
ethical issues. Therefore, it is important to consult with a genetic counselor
before and after taking these tests.
A genetic counselor5-7
is a health care professional who has specialized education and training in the
field of medical genetics. Professional counseling can help a person decide
whether a DTC genotyping or WGS test is appropriate for their situation, based
on their personal and family health history, goals, and expectations. It can
also explain the benefits and risks of these tests, such as the possibility of
false positives or negatives, incidental findings, or psychological distress. A
genetic counselor can also help a person understand the results of these tests
and their implications for their health and their family members. Counseling
can provide guidance and support on how to use the results to make informed
decisions about prevention, screening, treatment, or lifestyle changes. It can
also refer a person to other health care providers or resources that can help
them manage their health condition or risk.
By leveraging DTC
genotyping and WGS together with employing genetic counselors, a person can
improve their health outcome by gaining more knowledge about their genetic
profile and its impact on their health. This can help them take proactive steps
to prevent or treat diseases that they are at risk for, or cope with the
diagnosis of a genetic condition. It can also help them share relevant
information with their relatives who may also benefit from genetic testing or
counseling. However, it is important to remember that genetic tests are not
deterministic or definitive, and that they do not account for other factors
that influence health, such as environmental exposures, lifestyle behaviors, or
social determinants. Therefore, it is essential to consult with a genetic
counselor who can help interpret the results in the context of the whole person
and their unique circumstances.
1 Direct-to-Consumer (DTC) Genetic
Ancestry Reports: Why Genotyping is Essential (thermofisher.com)
2 8 Whole Genome Sequencing
Companies for Precision Health - Nanalyze
3 Gardner, A. (2023) Genotyping vs. Whole Genome
Sequencing: Which is Better? - Gene Food (mygenefood.com)
4 Finley, D. (2020) Nebula Launches $299
Direct-to-Consumer Whole Genome Sequencing Test (businessinsider.com)
6 Genetic Counselor - Explore
Health Care Careers - Mayo Clinic College of Medicine & Science
7 Genetic
Counselors : Occupational Outlook Handbook: : U.S.
Bureau of Labor Statistics (bls.gov)
|
Score |
|
|
Dataset from
direct-to-consumers (DTC) genotyping companies |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Other |
|
|
Dataset from DTC whole
genome sequencing companies |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Other |
|
|
Genome management companies |
|
|
|
|
|
Other |
|
|
Score 0 if already engaged
with one or more of the above companies, otherwise score 1 |
|
|
Access to a genetic
counselor |
|
|
|
|
|
Score 0 if you have direct
access to a genetic counselor or through a primary care doctor, otherwise
score 1 |
|
|
Potential
exposure to genetic disorders based on DTC reports with or without counseling |
|
|
For each class of genetic
disorders below, score 0 if none reported, or if the disorders were reported
but successfully treated. For each disorder reported and not yet treated
successfully, score 1 |
|
|
Single gene (monogenic)
disorders |
|
|
Complex (polygenic)
disorders |
|
|
Chromosomal disorders |
|
|
Overall score |
|
Reminder:
Accumulated score of zero requires no further action. The user is encouraged to
discuss with a healthcare provider any line items scored as 1 and proceed with
remedial actions as appropriate. Save or print the table. All forms will reset
to blank state once the user exits the website.
"Prevention is better than cure" Desiderius Erasmus